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nord_257_1 | Symptoms of Chromosome 4, Trisomy 4p | The symptoms and physical findings associated with Chromosome 4, Trisomy 4p may be variable. However, in many cases, the disorder is characterized by growth deficiency before and after birth (prenatal and postnatal growth retardation); feeding problems during early infancy; and increased muscle tone (hypertonia) in the first months of life, followed by diminished muscle tone (hypotonia). Affected infants may also have respiratory difficulties, potentially leading to life-threatening complications.Many infants with Trisomy 4p also have characteristic malformations of the head and facial (craniofacial) area. These may include an abnormally small head (microcephaly); a relatively small, flat forehead; a flat or depressed nasal bridge with a “bulb-shaped” (bulbous) nasal tip; and large, malformed (dysplastic) ears. Affected infants may also have widely spaced eyes (ocular hypertelorism) with abnormal prominence of the ridges above the eyes (supraorbital ridges). Additional craniofacial abnormalities may be present, such as a prominent chin, a relatively large tongue (macroglossia), irregularities of the teeth, and a short neck.Trisomy 4p may also be characterized by abnormalities of the hands and feet. For example, there may be inward deviation or bending (clinodactyly) of the fifth fingers (“pinkies”); permanent flexion of one or more fingers (camptodactyly); or malformations of the feet (e.g., “rocker-bottom” feet) with abnormal prominence of the heels. Some affected infants may also have unusually long, slender fingers or toes (arachnodactyly) or underdeveloped (hypoplastic) fingernails and toenails.Additional skeletal malformations may be associated with Trisomy 4p. These may include dislocation of the hip; abnormal front-to-back and sideways curvature of the spine (kyphoscoliosis); malformation of certain bones of the spinal column (vertebrae); or absence of certain ribs or the presence of additional ribs. In addition, certain joints may become permanently flexed or extended in various fixed postures (joint contractures), resulting in limited movements.Some individuals with Trisomy 4p may also have additional physical abnormalities. For example, affected males may have an unusually small penis (micropenis), abnormal placement of the urinary opening on the underside of the penis (hypospadias), or undescended testes (cryptorchidism). In some cases, additional abnormalities may include protrusion of portions of the intestine into muscles of the groin (inguinal hernia); structural abnormalities of the heart at birth (congenital heart defects); kidney (renal) malformations; or absence of the band of nerve fibers that joins the two hemispheres of the brain (agenesis of the corpus callosum). Some affected individuals may also develop episodes of uncontrolled electrical activity in the brain (seizures). In some cases, eye (ocular) abnormalities may also be present, such as abnormal smallness of the eyes (microphthalmia) or absence or defects of ocular tissue (colobomata) involving the middle region of the eyes (uvea).Trisomy 4p is also typically characterized by severe mental retardation. Affected infants and children have delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation). In addition, many may have poor language development or lack the ability to speak. | Symptoms of Chromosome 4, Trisomy 4p. The symptoms and physical findings associated with Chromosome 4, Trisomy 4p may be variable. However, in many cases, the disorder is characterized by growth deficiency before and after birth (prenatal and postnatal growth retardation); feeding problems during early infancy; and increased muscle tone (hypertonia) in the first months of life, followed by diminished muscle tone (hypotonia). Affected infants may also have respiratory difficulties, potentially leading to life-threatening complications.Many infants with Trisomy 4p also have characteristic malformations of the head and facial (craniofacial) area. These may include an abnormally small head (microcephaly); a relatively small, flat forehead; a flat or depressed nasal bridge with a “bulb-shaped” (bulbous) nasal tip; and large, malformed (dysplastic) ears. Affected infants may also have widely spaced eyes (ocular hypertelorism) with abnormal prominence of the ridges above the eyes (supraorbital ridges). Additional craniofacial abnormalities may be present, such as a prominent chin, a relatively large tongue (macroglossia), irregularities of the teeth, and a short neck.Trisomy 4p may also be characterized by abnormalities of the hands and feet. For example, there may be inward deviation or bending (clinodactyly) of the fifth fingers (“pinkies”); permanent flexion of one or more fingers (camptodactyly); or malformations of the feet (e.g., “rocker-bottom” feet) with abnormal prominence of the heels. Some affected infants may also have unusually long, slender fingers or toes (arachnodactyly) or underdeveloped (hypoplastic) fingernails and toenails.Additional skeletal malformations may be associated with Trisomy 4p. These may include dislocation of the hip; abnormal front-to-back and sideways curvature of the spine (kyphoscoliosis); malformation of certain bones of the spinal column (vertebrae); or absence of certain ribs or the presence of additional ribs. In addition, certain joints may become permanently flexed or extended in various fixed postures (joint contractures), resulting in limited movements.Some individuals with Trisomy 4p may also have additional physical abnormalities. For example, affected males may have an unusually small penis (micropenis), abnormal placement of the urinary opening on the underside of the penis (hypospadias), or undescended testes (cryptorchidism). In some cases, additional abnormalities may include protrusion of portions of the intestine into muscles of the groin (inguinal hernia); structural abnormalities of the heart at birth (congenital heart defects); kidney (renal) malformations; or absence of the band of nerve fibers that joins the two hemispheres of the brain (agenesis of the corpus callosum). Some affected individuals may also develop episodes of uncontrolled electrical activity in the brain (seizures). In some cases, eye (ocular) abnormalities may also be present, such as abnormal smallness of the eyes (microphthalmia) or absence or defects of ocular tissue (colobomata) involving the middle region of the eyes (uvea).Trisomy 4p is also typically characterized by severe mental retardation. Affected infants and children have delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation). In addition, many may have poor language development or lack the ability to speak. | 257 | Chromosome 4, Trisomy 4p |
nord_257_2 | Causes of Chromosome 4, Trisomy 4p | In individuals with Chromosome 4, Trisomy 4p, all or a portion of the short arm (p) of chromosome 4 appears three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p”, a long arm identified by the letter “q”, and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the short arm of chromosome 4 includes bands 4p11 to 4p16; the latter, which is the end or “terminal” band of 4p, is also known as “4pter”. The range and severity of associated symptoms and findings may depend on the size and location of the trisomic (duplicated) portion of chromosome 4p. For example, evidence suggests that characteristic features of the syndrome are most likely due to duplication of bands 4p15.2 to 4p16.1. In addition, some individuals with Trisomy 4p may have potentially undetectable duplications or deletions (monosomies) of another chromosome (e.g., due to a balanced parental translocation [see below]), possibly contributing to the variability of associated clinical features.In many cases, Chromosome 4, Trisomy 4p is due to a balanced chromosomal rearrangement in one of the parents. In most instances, the parental rearrangement is a “balanced translocation.” Translocations occur when portions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring.A few cases have also been reported in which the parental chromosomal rearrangement has been a pericentric inversion. A pericentric inversion is characterized by breakage of a chromosome in two places on either side of the centromere and reunion of the segment in the reverse order. In other affected individuals, duplication of chromosome 4p has appeared to be caused by spontaneous (de novo) errors during early embryonic development that occur for unknown reasons (sporadically). The parents of a child with a “de novo” duplication usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality.Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement involving chromosome 4 in one of the parents. | Causes of Chromosome 4, Trisomy 4p. In individuals with Chromosome 4, Trisomy 4p, all or a portion of the short arm (p) of chromosome 4 appears three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p”, a long arm identified by the letter “q”, and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the short arm of chromosome 4 includes bands 4p11 to 4p16; the latter, which is the end or “terminal” band of 4p, is also known as “4pter”. The range and severity of associated symptoms and findings may depend on the size and location of the trisomic (duplicated) portion of chromosome 4p. For example, evidence suggests that characteristic features of the syndrome are most likely due to duplication of bands 4p15.2 to 4p16.1. In addition, some individuals with Trisomy 4p may have potentially undetectable duplications or deletions (monosomies) of another chromosome (e.g., due to a balanced parental translocation [see below]), possibly contributing to the variability of associated clinical features.In many cases, Chromosome 4, Trisomy 4p is due to a balanced chromosomal rearrangement in one of the parents. In most instances, the parental rearrangement is a “balanced translocation.” Translocations occur when portions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring.A few cases have also been reported in which the parental chromosomal rearrangement has been a pericentric inversion. A pericentric inversion is characterized by breakage of a chromosome in two places on either side of the centromere and reunion of the segment in the reverse order. In other affected individuals, duplication of chromosome 4p has appeared to be caused by spontaneous (de novo) errors during early embryonic development that occur for unknown reasons (sporadically). The parents of a child with a “de novo” duplication usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality.Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement involving chromosome 4 in one of the parents. | 257 | Chromosome 4, Trisomy 4p |
nord_257_3 | Affects of Chromosome 4, Trisomy 4p | Chromosome 4, Trisomy 4p appears to affect males and females in relatively equal numbers. Trisomy for the short arm of chromosome 4 was originally described in 1970 (Wilson MG) and delineated as a distinct clinical syndrome in 1977 (Gonzalez CH). More than 85 patients with the syndrome have been reported in the medical literature. | Affects of Chromosome 4, Trisomy 4p. Chromosome 4, Trisomy 4p appears to affect males and females in relatively equal numbers. Trisomy for the short arm of chromosome 4 was originally described in 1970 (Wilson MG) and delineated as a distinct clinical syndrome in 1977 (Gonzalez CH). More than 85 patients with the syndrome have been reported in the medical literature. | 257 | Chromosome 4, Trisomy 4p |
nord_257_4 | Related disorders of Chromosome 4, Trisomy 4p | Many chromosomal disorders may have features similar to those associated with Chromosome 4, Trisomy 4p. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | Related disorders of Chromosome 4, Trisomy 4p. Many chromosomal disorders may have features similar to those associated with Chromosome 4, Trisomy 4p. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | 257 | Chromosome 4, Trisomy 4p |
nord_257_5 | Diagnosis of Chromosome 4, Trisomy 4p | In some cases, a diagnosis of Trisomy 4p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus. Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, whereas CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on the fluid or tissue samples may reveal the presence of Trisomy 4p.The diagnosis of Trisomy 4p may be confirmed after birth (postnatally) based upon a thorough clinical evaluation, detection of characteristic physical findings, and chromosomal analysis. In addition, specialized testing may also be conducted to detect or characterize certain abnormalities that may be associated with the disorder. Such testing may include specialized imaging techniques, such as computerized tomography (CT) scanning or magnetic resonance imaging (MRI); electroencephalography (EEG); or other specialized tests. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of internal structures. During MRI, a magnetic field and radio waves form detailed cross-sectional images of certain organs and tissues. EEG is a noninvasive diagnostic technique that records the brain's electrical impulses. EEG studies may reveal brain wave patterns that may be suggestive of certain types of seizures.In addition, congenital heart defects that may be associated with Trisomy 4p may be detected with specialized tests that enable physicians to evaluate the structure and function of the heart. Cardiac evaluation may include clinical examination with a stethoscope to evaluate heart and lung sounds; x-ray studies; tests that record the electrical activities of the heart muscle (electrocardiography [EKG]); a technique in which sound waves are directed toward the heart, enabling evaluation of cardiac motion and function (echocardiogram); or other measures (e.g., cardiac catheterization). | Diagnosis of Chromosome 4, Trisomy 4p. In some cases, a diagnosis of Trisomy 4p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus. Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, whereas CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on the fluid or tissue samples may reveal the presence of Trisomy 4p.The diagnosis of Trisomy 4p may be confirmed after birth (postnatally) based upon a thorough clinical evaluation, detection of characteristic physical findings, and chromosomal analysis. In addition, specialized testing may also be conducted to detect or characterize certain abnormalities that may be associated with the disorder. Such testing may include specialized imaging techniques, such as computerized tomography (CT) scanning or magnetic resonance imaging (MRI); electroencephalography (EEG); or other specialized tests. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of internal structures. During MRI, a magnetic field and radio waves form detailed cross-sectional images of certain organs and tissues. EEG is a noninvasive diagnostic technique that records the brain's electrical impulses. EEG studies may reveal brain wave patterns that may be suggestive of certain types of seizures.In addition, congenital heart defects that may be associated with Trisomy 4p may be detected with specialized tests that enable physicians to evaluate the structure and function of the heart. Cardiac evaluation may include clinical examination with a stethoscope to evaluate heart and lung sounds; x-ray studies; tests that record the electrical activities of the heart muscle (electrocardiography [EKG]); a technique in which sound waves are directed toward the heart, enabling evaluation of cardiac motion and function (echocardiogram); or other measures (e.g., cardiac catheterization). | 257 | Chromosome 4, Trisomy 4p |
nord_257_6 | Therapies of Chromosome 4, Trisomy 4p | TreatmentThe treatment of Chromosome 4, Trisomy 4p is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. These professionals may include pediatricians; surgeons; specialists who diagnose and treat abnormalities of the skeleton, joints, muscles, and related tissues (orthopedists); physicians who specialize in neurological disorders (neurologists); physicians who diagnose and treat heart abnormalities (cardiologists); and/or other health care professionals.In some affected individuals, treatment may include surgical repair of certain craniofacial, skeletal, genital, cardiac, or other abnormalities potentially associated with the disorder. The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors. Treatment may also include measures to help prevent or aggressively treat respiratory complications that may be associated with the disorder. Other treatment is symptomatic and supportive.Early intervention may be important in ensuring that children with Chromosome 4, Trisomy 4p reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for individuals with Trisomy 4p and their families. | Therapies of Chromosome 4, Trisomy 4p. TreatmentThe treatment of Chromosome 4, Trisomy 4p is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. These professionals may include pediatricians; surgeons; specialists who diagnose and treat abnormalities of the skeleton, joints, muscles, and related tissues (orthopedists); physicians who specialize in neurological disorders (neurologists); physicians who diagnose and treat heart abnormalities (cardiologists); and/or other health care professionals.In some affected individuals, treatment may include surgical repair of certain craniofacial, skeletal, genital, cardiac, or other abnormalities potentially associated with the disorder. The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors. Treatment may also include measures to help prevent or aggressively treat respiratory complications that may be associated with the disorder. Other treatment is symptomatic and supportive.Early intervention may be important in ensuring that children with Chromosome 4, Trisomy 4p reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for individuals with Trisomy 4p and their families. | 257 | Chromosome 4, Trisomy 4p |
nord_258_0 | Overview of Chromosome 4q Deletion | SummaryChromosome 4q deletion is a chromosomal disorder caused by a missing piece of the long arm of chromosome 4. It was first described in 1967 and is linked to symptoms in several organ systems. The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet, unusually small size associated with slow or delayed growth, congenital heart defects, and possible intellectual disability. | Overview of Chromosome 4q Deletion. SummaryChromosome 4q deletion is a chromosomal disorder caused by a missing piece of the long arm of chromosome 4. It was first described in 1967 and is linked to symptoms in several organ systems. The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet, unusually small size associated with slow or delayed growth, congenital heart defects, and possible intellectual disability. | 258 | Chromosome 4q Deletion |
nord_258_1 | Symptoms of Chromosome 4q Deletion | Patients with chromosome 4q deletion may have the following symptoms: unusual skull shape, short nose with unusual bridge, low-set ears that may not have formed well, cleft in the roof of the mouth, short breastbone, poor or delayed growth, moderate to severe intellectual disability, heart defects, unusual heart rhythm (arrhythmia), defective urinary and reproductive organs (genitourinary defects), small size, small hands and feet, unusually wide-set eyes (hypertelorism), a pointed fifth finger and nail which is common for this disorder, and decreased muscle tone (hypotonia). Some children may have a small jaw (micrognathia) which results in difficulties with breathing. There may be unusual brain findings (corpus callosum). In some patients, slow growth and intellectual disability may be present without obvious physical abnormalities, making it difficult to recognize this disorder.Some children with chromosome 4q deletion have psychiatric symptoms. These include aggression, hearing speech that is not present (verbal hallucinations), mood swings, and delusions. Not all people with chromosome 4q deletion have these symptoms, and symptoms can vary greatly. | Symptoms of Chromosome 4q Deletion. Patients with chromosome 4q deletion may have the following symptoms: unusual skull shape, short nose with unusual bridge, low-set ears that may not have formed well, cleft in the roof of the mouth, short breastbone, poor or delayed growth, moderate to severe intellectual disability, heart defects, unusual heart rhythm (arrhythmia), defective urinary and reproductive organs (genitourinary defects), small size, small hands and feet, unusually wide-set eyes (hypertelorism), a pointed fifth finger and nail which is common for this disorder, and decreased muscle tone (hypotonia). Some children may have a small jaw (micrognathia) which results in difficulties with breathing. There may be unusual brain findings (corpus callosum). In some patients, slow growth and intellectual disability may be present without obvious physical abnormalities, making it difficult to recognize this disorder.Some children with chromosome 4q deletion have psychiatric symptoms. These include aggression, hearing speech that is not present (verbal hallucinations), mood swings, and delusions. Not all people with chromosome 4q deletion have these symptoms, and symptoms can vary greatly. | 258 | Chromosome 4q Deletion |
nord_258_2 | Causes of Chromosome 4q Deletion | Genetic information, DNA, lies within almost every cell in the body and provides the instructions for how each tissue functions. DNA includes genes, which are responsible for making the proteins that have specific jobs within certain tissues of the body. This DNA is tightly wound and contained within structures called chromosomes. Most people are born with 23 pairs (46 total) of chromosomes in every cell of the body. Each of these 46 chromosomes has a long piece, called arm q, and a short piece, called arm p. Chromosome 4q deletion is caused by a partial missing piece of the long arm of chromosome 4. This chromosome deletion is usually not inherited, but occurs for the first time in the affected person. However, it is possible to pass the deletion to children.Symptoms can vary greatly, even in members of the same family. The severity and type of symptoms depend on the size and location of the missing chromosomal piece. Whether it is interstitial (situated between other parts of the chromosome) or terminal (on the end part of the chromosome) usually provides information on what to expect. Some genes that might be involved include:Researchers are studying other genes that might be involved with chromosome 4q deletion | Causes of Chromosome 4q Deletion. Genetic information, DNA, lies within almost every cell in the body and provides the instructions for how each tissue functions. DNA includes genes, which are responsible for making the proteins that have specific jobs within certain tissues of the body. This DNA is tightly wound and contained within structures called chromosomes. Most people are born with 23 pairs (46 total) of chromosomes in every cell of the body. Each of these 46 chromosomes has a long piece, called arm q, and a short piece, called arm p. Chromosome 4q deletion is caused by a partial missing piece of the long arm of chromosome 4. This chromosome deletion is usually not inherited, but occurs for the first time in the affected person. However, it is possible to pass the deletion to children.Symptoms can vary greatly, even in members of the same family. The severity and type of symptoms depend on the size and location of the missing chromosomal piece. Whether it is interstitial (situated between other parts of the chromosome) or terminal (on the end part of the chromosome) usually provides information on what to expect. Some genes that might be involved include:Researchers are studying other genes that might be involved with chromosome 4q deletion | 258 | Chromosome 4q Deletion |
nord_258_3 | Affects of Chromosome 4q Deletion | Chromosome 4q deletion is a rare disorder that is present at birth and is estimated to occur in 1 out of 100,000 people. Chromosome 4q deletion can sometimes be identified before birth by ultrasound and prenatal chromosome analysis. The condition affects males and females in equal numbers. It is not currently known to affect certain ethnicities more than others. There is typically no family history of the condition, and it occurs randomly. | Affects of Chromosome 4q Deletion. Chromosome 4q deletion is a rare disorder that is present at birth and is estimated to occur in 1 out of 100,000 people. Chromosome 4q deletion can sometimes be identified before birth by ultrasound and prenatal chromosome analysis. The condition affects males and females in equal numbers. It is not currently known to affect certain ethnicities more than others. There is typically no family history of the condition, and it occurs randomly. | 258 | Chromosome 4q Deletion |
nord_258_4 | Related disorders of Chromosome 4q Deletion | Other chromosomal disorders may be similar to chromosome 4q deletion. Comparisons may be useful for a differential diagnosis:Wolf-Hirschorn syndrome (4p-syndrome) is a chromosomal disorder caused by a partial deletion of part of the short arm of chromosome 4. Major symptoms include very wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures. (For more information on this disorder, choose “Wolf-Hirschorn” as your search term in the Rare Disease Database.)Chromosome 11, monosomy 11q is a rare genetic disorder affecting the long arm of chromosome 11. Symptoms may include very widely spaced eyes (hypertelorism), drooping eyelids, abnormally deviated eyes (strabismus), and abnormal positioning of eyes. Symptoms may also include a narrow protruding forehead, broad nasal root, short upturned tip of the nose, a carp-shaped (fish-like) mouth, receding chin, unusually shaped ears, unusual creases across the palms (simian creases), and intellectual disability. (For more information on this disorder, choose “chromosome 11, monosomy 11q” as your search term in the Rare Disease Database.)Greig cephalopolysyndactyly syndrome is a rare genetic disorder with symptoms that can include an enlarged head, unusual facial features, and unusual formation of hands and feet. (For more information on this disorder, choose “Greig” as your search term in the Rare Disease Database.)Some genetic conditions that involve extra chromosomes (trisomy) may also show symptoms that are similar to chromosome 4q deletion. (For more information on these disorders, choose “trisomy” as your search term in the Rare Disease Database.) | Related disorders of Chromosome 4q Deletion. Other chromosomal disorders may be similar to chromosome 4q deletion. Comparisons may be useful for a differential diagnosis:Wolf-Hirschorn syndrome (4p-syndrome) is a chromosomal disorder caused by a partial deletion of part of the short arm of chromosome 4. Major symptoms include very wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures. (For more information on this disorder, choose “Wolf-Hirschorn” as your search term in the Rare Disease Database.)Chromosome 11, monosomy 11q is a rare genetic disorder affecting the long arm of chromosome 11. Symptoms may include very widely spaced eyes (hypertelorism), drooping eyelids, abnormally deviated eyes (strabismus), and abnormal positioning of eyes. Symptoms may also include a narrow protruding forehead, broad nasal root, short upturned tip of the nose, a carp-shaped (fish-like) mouth, receding chin, unusually shaped ears, unusual creases across the palms (simian creases), and intellectual disability. (For more information on this disorder, choose “chromosome 11, monosomy 11q” as your search term in the Rare Disease Database.)Greig cephalopolysyndactyly syndrome is a rare genetic disorder with symptoms that can include an enlarged head, unusual facial features, and unusual formation of hands and feet. (For more information on this disorder, choose “Greig” as your search term in the Rare Disease Database.)Some genetic conditions that involve extra chromosomes (trisomy) may also show symptoms that are similar to chromosome 4q deletion. (For more information on these disorders, choose “trisomy” as your search term in the Rare Disease Database.) | 258 | Chromosome 4q Deletion |
nord_258_5 | Diagnosis of Chromosome 4q Deletion | Chromosome 4q deletion is diagnosed by genetic testing. There are different genetic tests that can be used to find a chromosome 4q deletion. These include:1. Karyotype – This test makes an image of a person's chromosomes. This test can be used to find large deletions.2. FISH (fluorescence in situ hybridization) – This test is used to find a specific DNA region on a chromosome. A chromosome is attached to a small DNA region called a probe that has a glowing (fluorescent) molecule attached to it. This test can be used to find deletions that are too small to be seen on a karyotype. FISH is only useful if the person ordering the test thinks there is a deletion of a specific region of 4q.3. Array CGH (comparative genomic hybridization) – This test can find deletions that are too small to be seen on a karyotype. | Diagnosis of Chromosome 4q Deletion. Chromosome 4q deletion is diagnosed by genetic testing. There are different genetic tests that can be used to find a chromosome 4q deletion. These include:1. Karyotype – This test makes an image of a person's chromosomes. This test can be used to find large deletions.2. FISH (fluorescence in situ hybridization) – This test is used to find a specific DNA region on a chromosome. A chromosome is attached to a small DNA region called a probe that has a glowing (fluorescent) molecule attached to it. This test can be used to find deletions that are too small to be seen on a karyotype. FISH is only useful if the person ordering the test thinks there is a deletion of a specific region of 4q.3. Array CGH (comparative genomic hybridization) – This test can find deletions that are too small to be seen on a karyotype. | 258 | Chromosome 4q Deletion |
nord_258_6 | Therapies of Chromosome 4q Deletion | Treatment
Surgery is used to treat heart and skeletal issues, if needed. Children with delays in walking or other milestones may need treatments like occupational or physical therapy. Children with a small jaw s that makes breathing difficult may require surgery to make the bones longer. Medications may be helpful for seizures, reflux, or growth issues. Special education is helpful for children with intellectual or learning disabilities. Multivitamins and citrus fruits are recommended for all children with chromosome 4q deletion. Coenzyme Q10 can be helpful for people struggling with slow growth and reflux.For patients of chromosome 4q deletion, special education and vocational services may be of benefit. Early intervention services, such as physical therapy, occupational therapy, and special education are important. Other treatment is based on the symptoms of each person.Genetic counseling may be of benefit for patients and their families. Genetic counseling involves speaking with a specialized healthcare provider, called a genetic counselor, who collects a detailed personal and family history of the person with chromosome 4q deletion. This can be helpful for determining what therapies and resources might beneficial, as well as who else in the family should consider genetic testing for chromosome 4q deletion. Counselors can also explain the chance of passing down a genetic condition in the family. | Therapies of Chromosome 4q Deletion. Treatment
Surgery is used to treat heart and skeletal issues, if needed. Children with delays in walking or other milestones may need treatments like occupational or physical therapy. Children with a small jaw s that makes breathing difficult may require surgery to make the bones longer. Medications may be helpful for seizures, reflux, or growth issues. Special education is helpful for children with intellectual or learning disabilities. Multivitamins and citrus fruits are recommended for all children with chromosome 4q deletion. Coenzyme Q10 can be helpful for people struggling with slow growth and reflux.For patients of chromosome 4q deletion, special education and vocational services may be of benefit. Early intervention services, such as physical therapy, occupational therapy, and special education are important. Other treatment is based on the symptoms of each person.Genetic counseling may be of benefit for patients and their families. Genetic counseling involves speaking with a specialized healthcare provider, called a genetic counselor, who collects a detailed personal and family history of the person with chromosome 4q deletion. This can be helpful for determining what therapies and resources might beneficial, as well as who else in the family should consider genetic testing for chromosome 4q deletion. Counselors can also explain the chance of passing down a genetic condition in the family. | 258 | Chromosome 4q Deletion |
nord_259_0 | Overview of Chromosome 5, Trisomy 5p | Trisomy 5p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Often the duplicated portion of 5p (trisomy) is due to a complex rearrangement involving other chromosomes. These individuals have a variable phenotype depending on which chromosome is involved, the size of the duplication and whether there is loss of material from the same or another chromosome.Affected individuals may have an isolated duplication of 5p, a ring or supernumerary marker chromosome made up of only 5p material and the pericentric area of 5q, or when there is a derivative chromosome (unbalanced) from a translocation (switch of material between chromosomes) involving the short arm of chromosome 5 and the short arm of chromosomes 13,14,15,21,or 22) . These individuals have less variability since all of the material involved is from chromosome 5p. The variability is due solely to the size and location of the duplication. The individuals with only the duplication allow a better description of the symptoms (phenotype) and definition of a critical region for certain symptoms (cardiac abnormalities and seizures). Many affected infants and children have abnormalities that include low muscle tone (hypotonia); an unusually large head (macrocephaly) and additional abnormalities of the head and facial (craniofacial) area; large abdominal regions, long, slender fingers (arachnodactyly); delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor impairment); and intellectual disability. Some affected individuals may have heart defects and seizures. Not all individuals with trisomy 5p will have all of the symptoms of the disorder. | Overview of Chromosome 5, Trisomy 5p. Trisomy 5p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Often the duplicated portion of 5p (trisomy) is due to a complex rearrangement involving other chromosomes. These individuals have a variable phenotype depending on which chromosome is involved, the size of the duplication and whether there is loss of material from the same or another chromosome.Affected individuals may have an isolated duplication of 5p, a ring or supernumerary marker chromosome made up of only 5p material and the pericentric area of 5q, or when there is a derivative chromosome (unbalanced) from a translocation (switch of material between chromosomes) involving the short arm of chromosome 5 and the short arm of chromosomes 13,14,15,21,or 22) . These individuals have less variability since all of the material involved is from chromosome 5p. The variability is due solely to the size and location of the duplication. The individuals with only the duplication allow a better description of the symptoms (phenotype) and definition of a critical region for certain symptoms (cardiac abnormalities and seizures). Many affected infants and children have abnormalities that include low muscle tone (hypotonia); an unusually large head (macrocephaly) and additional abnormalities of the head and facial (craniofacial) area; large abdominal regions, long, slender fingers (arachnodactyly); delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor impairment); and intellectual disability. Some affected individuals may have heart defects and seizures. Not all individuals with trisomy 5p will have all of the symptoms of the disorder. | 259 | Chromosome 5, Trisomy 5p |
nord_259_1 | Symptoms of Chromosome 5, Trisomy 5p | The symptoms and physical findings associated with trisomy 5p are variable and depend on the location and size of the duplicated segment. The information reported here is from case reports with duplications, markers, rings or translocations involving the short arm of chromosome 5 with the short arm of an acrocentric chromosome (13,14,15,21,or 22). Other findings may be present if there are monosomies (deletions) due to complex rearrangements or translocations involving other chromosomes and the short arm of chromosome 5p. Infants with the disorder may have a normal birth weight or intrauterine growth retardation (IUGR). There may be extra fluid around the baby (polyhydramnios) during the pregnancy, early labor, or a decrease in the fluid in the stomach of the baby. The decrease in the fluid is believed to be due to swallowing tube abnormalities (esophageal atresia). Apgars at birth may be lower than the expected 9/10 and have been reported in the range of 5/6 most likely due to respiratory distress (trouble breathing) and low muscle tone (hypotonia). At birth the soft parts of the skull where the bones of the skull come together (fontanels) may be enlarged. Growth delays after birth (postnatal growth retardation) are common along with abnormally diminished muscle tone (hypotonia). The muscle tone may be mixed with some areas such as the neck and trunk showing low muscle tone (hypotonia) and other areas such as the lower limbs showing increased muscle tone or stiffness (hypertonia).There are characteristic malformations of the head and facial (craniofacial) area. The head may be unusually large (macrocephaly) and has been described as long from front to back (dolichocephaly). There may also be a broad forehead. CT and MRI have shown that some individuals increased fluid in the ventricles of the brain (hydrocephalus). The eyes may be widely spaced (hypertelorism), have an upslant to them and the opening for the eye (palpebral fissure) may be small. There may also bevertical skin folds covering the eyes' inner corners (epicanthal folds). The eyes may be small (microopthalmia) or they may be an abnormal deviation of one eye in relation to the other (strabismus). Partial absence of tissue from the colored portion of the eyes (coloboma), or protrusion of the eyes from the orbit (exophthalmos) has been reported. The eyebrows may be sparse and a depressed nasal bridge may be present, with a broad nasal tip and the nose itself may be short. Ears are often low-set and there may be fewer creases of the ear (simple helix) or the ear may have indented areas (crumpled helix). Hearing tends to be normal. There may be a high arched palate. The chin is set back (retrognathia) but in a few cases, in older individuals, the chin is prominent. There may be a large tongue (macroglossia). There may be flattening of the cheek area (midface hyperplasia). Individuals are noted to have a short neck. In some cases, additional physical abnormalities may also be present, such as narrowing of the larynx (laryngostenosis), which is the organ that connects the throat (pharynx) with the windpipe (trachea). Some of these physical findings have been noted to be similar to a condition known as Binder syndrome. Infants with trisomy 5p may also have a narrow chest with a prominent or distended abdomen. Some affected infants may also have structural heart (cardiac) malformations that are present at birth (congenital heart defects), such as an abnormal opening in the fibrous partition (septum) that separates the upper chambers of the heart (atrial septal defects) and/ or an abnormal opening in the fibrous partition that separates the lower chambers of the heart called a VSD (ventral septal defects). Some individual have problems with the urine collecting system in the kidneys (pyelectasis). Hyodceles (swelling of the scrotum) and hernias have been reported. Several children have been reported with dry skin or eczema.There are also characteristic abnormalities of the hands and feet. These may include abnormally long, slender fingers (arachnodactyly); short first toes; or deformities in which the feet are abnormally twisted out of position or shape (clubfeet). Shortened femurs have also been described in association with 5p duplication. Some affected infants may have feeding difficulties and an increased susceptibility to repeated respiratory infections. The increase in respiratory infections is thought to be due to a molecule that helps protect the lining of the mouth and respiratory track from bacteria. The molecule is called IGA (immunoglobulin A) and although it is produced in normal amounts, the amount secreted is decreased. Reports exist of incoordination of swallowing which leads to aspiration which can lead to pneumonia and feeding difficulties. Deaths have been reported due to respiratory problems.Trisomy 5p may also be associated with abnormal delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor impairment) and varying levels of intellectual disability, including autism spectrum disorders. Abnormal episodes of uncontrolled electrical activity in the brain (seizures) are frequently reported and the seizures may require multiple medications. Speech is often delayed and children may have echolalia (repetitive speech patterns- like the child is echoing things that they have heard at some time in their life.). There may be repetitive movements of the hands (stereotypic movements). Attention Deficit Disorder is very common. Increase weight gain and obesity is reported in older individuals. There is one individual reported with swelling (lymphedema) of the legs. It is uncertain whether the lymphedema was due to the obesity or is a separate finding. | Symptoms of Chromosome 5, Trisomy 5p. The symptoms and physical findings associated with trisomy 5p are variable and depend on the location and size of the duplicated segment. The information reported here is from case reports with duplications, markers, rings or translocations involving the short arm of chromosome 5 with the short arm of an acrocentric chromosome (13,14,15,21,or 22). Other findings may be present if there are monosomies (deletions) due to complex rearrangements or translocations involving other chromosomes and the short arm of chromosome 5p. Infants with the disorder may have a normal birth weight or intrauterine growth retardation (IUGR). There may be extra fluid around the baby (polyhydramnios) during the pregnancy, early labor, or a decrease in the fluid in the stomach of the baby. The decrease in the fluid is believed to be due to swallowing tube abnormalities (esophageal atresia). Apgars at birth may be lower than the expected 9/10 and have been reported in the range of 5/6 most likely due to respiratory distress (trouble breathing) and low muscle tone (hypotonia). At birth the soft parts of the skull where the bones of the skull come together (fontanels) may be enlarged. Growth delays after birth (postnatal growth retardation) are common along with abnormally diminished muscle tone (hypotonia). The muscle tone may be mixed with some areas such as the neck and trunk showing low muscle tone (hypotonia) and other areas such as the lower limbs showing increased muscle tone or stiffness (hypertonia).There are characteristic malformations of the head and facial (craniofacial) area. The head may be unusually large (macrocephaly) and has been described as long from front to back (dolichocephaly). There may also be a broad forehead. CT and MRI have shown that some individuals increased fluid in the ventricles of the brain (hydrocephalus). The eyes may be widely spaced (hypertelorism), have an upslant to them and the opening for the eye (palpebral fissure) may be small. There may also bevertical skin folds covering the eyes' inner corners (epicanthal folds). The eyes may be small (microopthalmia) or they may be an abnormal deviation of one eye in relation to the other (strabismus). Partial absence of tissue from the colored portion of the eyes (coloboma), or protrusion of the eyes from the orbit (exophthalmos) has been reported. The eyebrows may be sparse and a depressed nasal bridge may be present, with a broad nasal tip and the nose itself may be short. Ears are often low-set and there may be fewer creases of the ear (simple helix) or the ear may have indented areas (crumpled helix). Hearing tends to be normal. There may be a high arched palate. The chin is set back (retrognathia) but in a few cases, in older individuals, the chin is prominent. There may be a large tongue (macroglossia). There may be flattening of the cheek area (midface hyperplasia). Individuals are noted to have a short neck. In some cases, additional physical abnormalities may also be present, such as narrowing of the larynx (laryngostenosis), which is the organ that connects the throat (pharynx) with the windpipe (trachea). Some of these physical findings have been noted to be similar to a condition known as Binder syndrome. Infants with trisomy 5p may also have a narrow chest with a prominent or distended abdomen. Some affected infants may also have structural heart (cardiac) malformations that are present at birth (congenital heart defects), such as an abnormal opening in the fibrous partition (septum) that separates the upper chambers of the heart (atrial septal defects) and/ or an abnormal opening in the fibrous partition that separates the lower chambers of the heart called a VSD (ventral septal defects). Some individual have problems with the urine collecting system in the kidneys (pyelectasis). Hyodceles (swelling of the scrotum) and hernias have been reported. Several children have been reported with dry skin or eczema.There are also characteristic abnormalities of the hands and feet. These may include abnormally long, slender fingers (arachnodactyly); short first toes; or deformities in which the feet are abnormally twisted out of position or shape (clubfeet). Shortened femurs have also been described in association with 5p duplication. Some affected infants may have feeding difficulties and an increased susceptibility to repeated respiratory infections. The increase in respiratory infections is thought to be due to a molecule that helps protect the lining of the mouth and respiratory track from bacteria. The molecule is called IGA (immunoglobulin A) and although it is produced in normal amounts, the amount secreted is decreased. Reports exist of incoordination of swallowing which leads to aspiration which can lead to pneumonia and feeding difficulties. Deaths have been reported due to respiratory problems.Trisomy 5p may also be associated with abnormal delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor impairment) and varying levels of intellectual disability, including autism spectrum disorders. Abnormal episodes of uncontrolled electrical activity in the brain (seizures) are frequently reported and the seizures may require multiple medications. Speech is often delayed and children may have echolalia (repetitive speech patterns- like the child is echoing things that they have heard at some time in their life.). There may be repetitive movements of the hands (stereotypic movements). Attention Deficit Disorder is very common. Increase weight gain and obesity is reported in older individuals. There is one individual reported with swelling (lymphedema) of the legs. It is uncertain whether the lymphedema was due to the obesity or is a separate finding. | 259 | Chromosome 5, Trisomy 5p |
nord_259_2 | Causes of Chromosome 5, Trisomy 5p | In individuals with trisomy 5p, all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p”, a long arm identified by the letter “q,” and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the short arm of chromosome 5 includes bands 5p10 (at the centromere or constriction of the chromosome) to 5p15, which is the end of the short arm or “terminal” band of 5p (also known as “5pter”).The range and severity of associated symptoms and findings may depend on the length and location of the trisomic (duplicated) portion of the chromosome. Even very small duplication in the 5p region have been implicated in both physical and neurodevelopmental abnormalities. Characteristic physical features of the syndrome have been reported in individuals with complete duplications of 5p as well as those with various partial duplications and individuals who are mosaics. Mosaicism is when there are two cell populations with in the body. Some cells have the duplication while other cells do not. Comparison of the features and the overlapping areas, allows for the definition of a critical region for various phenotypic features. For the majority of the phenotypic features to be present, the duplication must include 5p10 to 5p13.1. The critical region for cardiac abnormalities and seizures is the duplication of 15p13.3. Most physical features are due to a duplication of the bands 5p13.0 to 5p13.3. The critical region for developmental delay and intellectual disability is thought to be the duplication of 5p14 to 5p15. Individuals who only have the duplication of 5p14 to 5p15 may not have any physical findings. Two boys have been reported with no intellectual disability with duplication from 5p15.1 to 5p15.3 near the terminus (which is toward the terminus but beyond the area for reported intellectual disability) yet others have had delay. Additionally, a microduplication in the region of 5p13.1 to 5p13.2 has been reported in an dysmorphic autistic child with poor self-care. The critical region for epilepsy appears to be a duplication of 5p13.2-5p13.3. Based upon the data for critical area, the gene NIPBL has been reported as possibly being the candidate gene for the syndrome. Since some individuals do not have a duplication that is within this critical area, other genes may also be adding to the phenotypic features. Another gene that has been reported to be a possible candidate gene for the clinical features observed is GDNF.In most cases, trisomy 5p appears to be caused by spontaneous (de novo) errors very early in embryonic development. In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality.In some cases, the duplication may result from a balanced chromosomal rearrangement in one of the parents and in rare cases the translocation is a new event in the child (de-novo translocation). Translocations occur when a portion of one chromosome breaks off and switches places with another chromosome piece that has broken off. This switch results in the shifting of genetic material. In the parent, if all of the material is present, it is balanced and thus is usually harmless to the carrier. Offspring produced from a parent with a balanced translocation may be balanced and thus have no phenotypic features since there is no duplication or be unbalanced. If the translocation involves the short arm of chromosomes 13, 14, 15, 21 or 22, there is loss of material, but that material will not contribute to the phenotype since it does not include genetic material with unique genes. Thus, individuals who have an unbalanced translocation with the derivative chromosomes 13, 14, 15, 21 or 22 have a phenotype that is due to purely the gain or duplication of the 5p material. If they inherit the derivative 5 they will have loss of 5p material rather than a gain of 5p material. If any other chromosome is involved with chromosome 5 in an unbalanced translocation, the individual will have extra and missing material. Depending on which chromosomes are inherited, a duplication of 5p may be present with missing chromosomal material from the other chromosome involved in the translocation. A translocation may be suspected in individuals who have had multiple miscarriages.Rare cases have also been reported in which the parental chromosomal rearrangement has been an inversion. An inversion is characterized by breakage of a chromosome in two places and reunion of the segment in the reverse order. The piece of the chromosome furthest away from the centromere is located closer to the centromere and the piece of chromosome closest to the centromere is now farther away from the centromere. Again an inversion is balanced (all of the pieces of genetic material are present) in the parent; but can lead to either balanced or unbalanced offspring. The size of the inversion and its location often will determine the risk for unbalanced offspring.Multiple cases have been due to small supernumerary marker chromosomes comprised of all or a majority of material from the short arm of chromosome 5. These are often ring chromosome caused by two breaks in the chromosome. The breaks are more susceptible to allowing the ends to combine, forming a ring. Individuals with ring chromosomes may be mosaics, since the rings are not stable. In the case of 5p duplication, where most of the material is derived from the short arm, the ring will include a very small area on the long arm that is near the centromere that does not contain genes with known clinical consequence. Thus these individuals will have features that are solely due to the duplication of the short arm of chromosome 5. If more of the long arm of chromosome 5 is involved, the individual will have a phenotype that is slightly different and will varied from the commonly observed phenotype of individuals with duplication of 5p material alone. In fact, there has been a suggestion that some of the long arm of chromosome 5 may provide a protective effect of 5p duplication and thus these individuals have milder phenotype. | Causes of Chromosome 5, Trisomy 5p. In individuals with trisomy 5p, all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p”, a long arm identified by the letter “q,” and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the short arm of chromosome 5 includes bands 5p10 (at the centromere or constriction of the chromosome) to 5p15, which is the end of the short arm or “terminal” band of 5p (also known as “5pter”).The range and severity of associated symptoms and findings may depend on the length and location of the trisomic (duplicated) portion of the chromosome. Even very small duplication in the 5p region have been implicated in both physical and neurodevelopmental abnormalities. Characteristic physical features of the syndrome have been reported in individuals with complete duplications of 5p as well as those with various partial duplications and individuals who are mosaics. Mosaicism is when there are two cell populations with in the body. Some cells have the duplication while other cells do not. Comparison of the features and the overlapping areas, allows for the definition of a critical region for various phenotypic features. For the majority of the phenotypic features to be present, the duplication must include 5p10 to 5p13.1. The critical region for cardiac abnormalities and seizures is the duplication of 15p13.3. Most physical features are due to a duplication of the bands 5p13.0 to 5p13.3. The critical region for developmental delay and intellectual disability is thought to be the duplication of 5p14 to 5p15. Individuals who only have the duplication of 5p14 to 5p15 may not have any physical findings. Two boys have been reported with no intellectual disability with duplication from 5p15.1 to 5p15.3 near the terminus (which is toward the terminus but beyond the area for reported intellectual disability) yet others have had delay. Additionally, a microduplication in the region of 5p13.1 to 5p13.2 has been reported in an dysmorphic autistic child with poor self-care. The critical region for epilepsy appears to be a duplication of 5p13.2-5p13.3. Based upon the data for critical area, the gene NIPBL has been reported as possibly being the candidate gene for the syndrome. Since some individuals do not have a duplication that is within this critical area, other genes may also be adding to the phenotypic features. Another gene that has been reported to be a possible candidate gene for the clinical features observed is GDNF.In most cases, trisomy 5p appears to be caused by spontaneous (de novo) errors very early in embryonic development. In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality.In some cases, the duplication may result from a balanced chromosomal rearrangement in one of the parents and in rare cases the translocation is a new event in the child (de-novo translocation). Translocations occur when a portion of one chromosome breaks off and switches places with another chromosome piece that has broken off. This switch results in the shifting of genetic material. In the parent, if all of the material is present, it is balanced and thus is usually harmless to the carrier. Offspring produced from a parent with a balanced translocation may be balanced and thus have no phenotypic features since there is no duplication or be unbalanced. If the translocation involves the short arm of chromosomes 13, 14, 15, 21 or 22, there is loss of material, but that material will not contribute to the phenotype since it does not include genetic material with unique genes. Thus, individuals who have an unbalanced translocation with the derivative chromosomes 13, 14, 15, 21 or 22 have a phenotype that is due to purely the gain or duplication of the 5p material. If they inherit the derivative 5 they will have loss of 5p material rather than a gain of 5p material. If any other chromosome is involved with chromosome 5 in an unbalanced translocation, the individual will have extra and missing material. Depending on which chromosomes are inherited, a duplication of 5p may be present with missing chromosomal material from the other chromosome involved in the translocation. A translocation may be suspected in individuals who have had multiple miscarriages.Rare cases have also been reported in which the parental chromosomal rearrangement has been an inversion. An inversion is characterized by breakage of a chromosome in two places and reunion of the segment in the reverse order. The piece of the chromosome furthest away from the centromere is located closer to the centromere and the piece of chromosome closest to the centromere is now farther away from the centromere. Again an inversion is balanced (all of the pieces of genetic material are present) in the parent; but can lead to either balanced or unbalanced offspring. The size of the inversion and its location often will determine the risk for unbalanced offspring.Multiple cases have been due to small supernumerary marker chromosomes comprised of all or a majority of material from the short arm of chromosome 5. These are often ring chromosome caused by two breaks in the chromosome. The breaks are more susceptible to allowing the ends to combine, forming a ring. Individuals with ring chromosomes may be mosaics, since the rings are not stable. In the case of 5p duplication, where most of the material is derived from the short arm, the ring will include a very small area on the long arm that is near the centromere that does not contain genes with known clinical consequence. Thus these individuals will have features that are solely due to the duplication of the short arm of chromosome 5. If more of the long arm of chromosome 5 is involved, the individual will have a phenotype that is slightly different and will varied from the commonly observed phenotype of individuals with duplication of 5p material alone. In fact, there has been a suggestion that some of the long arm of chromosome 5 may provide a protective effect of 5p duplication and thus these individuals have milder phenotype. | 259 | Chromosome 5, Trisomy 5p |
nord_259_3 | Affects of Chromosome 5, Trisomy 5p | In observed cases, trisomy 5p has appeared to affect females slightly more often than males and affects all ethnic groups. More than 40 cases have been described since the original description by Lejeune in 1964. | Affects of Chromosome 5, Trisomy 5p. In observed cases, trisomy 5p has appeared to affect females slightly more often than males and affects all ethnic groups. More than 40 cases have been described since the original description by Lejeune in 1964. | 259 | Chromosome 5, Trisomy 5p |
nord_259_4 | Related disorders of Chromosome 5, Trisomy 5p | While the features for trisomy 5p appear consistent, the diagnosis cannot be made on clinical features alone. Many of the features seen in trisomy 5p can be seen in other genetic conditions or chromosomal abnormalities. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | Related disorders of Chromosome 5, Trisomy 5p. While the features for trisomy 5p appear consistent, the diagnosis cannot be made on clinical features alone. Many of the features seen in trisomy 5p can be seen in other genetic conditions or chromosomal abnormalities. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | 259 | Chromosome 5, Trisomy 5p |
nord_259_5 | Diagnosis of Chromosome 5, Trisomy 5p | A blood chromosome (cytogenetic) study or a chromosomal microarray analysis is required to make the diagnosis.Prenatal
In some cases, a diagnosis of a chromosomal abnormality may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, or chorionic villus sampling (CVS). During fetal ultrasonography performed at 16-18 weeks gestation, reflected sound waves are used to create an image of the developing fetus. Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. Ultrasounds using 3D technology may further define the physical abnormalities; however, to make a specific diagnosis of a duplication of 5p either chromosomal analysis or chromosomal microarray is necessary. In such cases, an amniocentesis is offered to the parents. During an amniocentesis at 16-18 weeks gestation, a sample of fluid that surrounds the developing fetus is removed. The cells within the fluid are grown in culture. After enough cells have grown, the cells are collected and processed for cytogenetic or chromosomal microarray analysis. Parents are counseled regarding the risks of amniocentesis and then are asked if they consent to the procedure.A chorionic villus sampling (CVS) may be performed earlier in pregnancy (11-12 weeks gestation). CVS involves the removal of tissue samples from a portion of the placenta. Cells from the tissue are grown and cytogenetic or chromosomal microarray analysis performed. This testing is offered if there is an indication of a chromosomal abnormality from a nuchal translucency (ultrasound that examines the extra skin around the neck of the baby) performed at 11-12 weeks gestation or if there has been a previous child born with an abnormality due to the parent having a balanced rearrangement. Nuchal translucency and CVS require early knowledge of a pregnancy. Risks of the procedure will be explained and then parents are asked if they consent to the procedure being performed.Postnatal
The diagnosis of trisomy 5p may be made or confirmed after birth (postnatal) based upon a thorough clinical evaluation, detection of characteristic physical findings, and cytogenetic or chromosomal microarray analysis. Chromosomal microarray analysis can more accurately identify the breakpoints involved in a trisomy 5p and will detect unbalanced but not balanced rearrangements. With this knowledge, certain physical features may be suspected and monitored (e.g., congenital heart defects, seizure activity).After finding a duplication of the 5p region either prenatally or postnatally, a parental chromosome study may be indicated. The parental chromosome results aid in determining the risk of future offspring having a similar type of abnormality. Genetic counseling is recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement involving chromosome 5 in one of the parents. | Diagnosis of Chromosome 5, Trisomy 5p. A blood chromosome (cytogenetic) study or a chromosomal microarray analysis is required to make the diagnosis.Prenatal
In some cases, a diagnosis of a chromosomal abnormality may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, or chorionic villus sampling (CVS). During fetal ultrasonography performed at 16-18 weeks gestation, reflected sound waves are used to create an image of the developing fetus. Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. Ultrasounds using 3D technology may further define the physical abnormalities; however, to make a specific diagnosis of a duplication of 5p either chromosomal analysis or chromosomal microarray is necessary. In such cases, an amniocentesis is offered to the parents. During an amniocentesis at 16-18 weeks gestation, a sample of fluid that surrounds the developing fetus is removed. The cells within the fluid are grown in culture. After enough cells have grown, the cells are collected and processed for cytogenetic or chromosomal microarray analysis. Parents are counseled regarding the risks of amniocentesis and then are asked if they consent to the procedure.A chorionic villus sampling (CVS) may be performed earlier in pregnancy (11-12 weeks gestation). CVS involves the removal of tissue samples from a portion of the placenta. Cells from the tissue are grown and cytogenetic or chromosomal microarray analysis performed. This testing is offered if there is an indication of a chromosomal abnormality from a nuchal translucency (ultrasound that examines the extra skin around the neck of the baby) performed at 11-12 weeks gestation or if there has been a previous child born with an abnormality due to the parent having a balanced rearrangement. Nuchal translucency and CVS require early knowledge of a pregnancy. Risks of the procedure will be explained and then parents are asked if they consent to the procedure being performed.Postnatal
The diagnosis of trisomy 5p may be made or confirmed after birth (postnatal) based upon a thorough clinical evaluation, detection of characteristic physical findings, and cytogenetic or chromosomal microarray analysis. Chromosomal microarray analysis can more accurately identify the breakpoints involved in a trisomy 5p and will detect unbalanced but not balanced rearrangements. With this knowledge, certain physical features may be suspected and monitored (e.g., congenital heart defects, seizure activity).After finding a duplication of the 5p region either prenatally or postnatally, a parental chromosome study may be indicated. The parental chromosome results aid in determining the risk of future offspring having a similar type of abnormality. Genetic counseling is recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement involving chromosome 5 in one of the parents. | 259 | Chromosome 5, Trisomy 5p |
nord_259_6 | Therapies of Chromosome 5, Trisomy 5p | TreatmentThe treatment of trisomy 5p is directed toward the specific symptoms exhibited by the individual. Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. A geneticist aids in determining what specialists are needed, coordinates the care of the affected individual, and provides genetic counseling regarding risks for future pregnancies and risks for other family members Other professionals may include pediatricians for general health assessment; surgeons; cardiologists; cardiac surgeons; ophthalmologists; ear, nose and throat specialists, neurologists and/or other health care professionals.In some affected individuals, treatment may include surgical repair of certain craniofacial, cardiac, or other abnormalities potentially associated with the disorder. The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors.Treatment may require an MRI or CT scan of the head to diagnose and possibly treat any excess fluid in the ventricles of the brain. There may be the need to place a gastric feeding tube (G-tube or button) to aid with feeding difficulties. Certain foods may need to be avoided. To treat seizures, multiple medications may be necessary. Treatment may also include measures to help prevent or aggressively treat respiratory infections. Other treatment is symptomatic and supportive.Early intervention is important to ensure that children with trisomy 5p reach their potential. Special services are beneficial and include special education, social, and/or vocational services. | Therapies of Chromosome 5, Trisomy 5p. TreatmentThe treatment of trisomy 5p is directed toward the specific symptoms exhibited by the individual. Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. A geneticist aids in determining what specialists are needed, coordinates the care of the affected individual, and provides genetic counseling regarding risks for future pregnancies and risks for other family members Other professionals may include pediatricians for general health assessment; surgeons; cardiologists; cardiac surgeons; ophthalmologists; ear, nose and throat specialists, neurologists and/or other health care professionals.In some affected individuals, treatment may include surgical repair of certain craniofacial, cardiac, or other abnormalities potentially associated with the disorder. The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors.Treatment may require an MRI or CT scan of the head to diagnose and possibly treat any excess fluid in the ventricles of the brain. There may be the need to place a gastric feeding tube (G-tube or button) to aid with feeding difficulties. Certain foods may need to be avoided. To treat seizures, multiple medications may be necessary. Treatment may also include measures to help prevent or aggressively treat respiratory infections. Other treatment is symptomatic and supportive.Early intervention is important to ensure that children with trisomy 5p reach their potential. Special services are beneficial and include special education, social, and/or vocational services. | 259 | Chromosome 5, Trisomy 5p |
nord_260_0 | Overview of Chromosome 6 Ring | Chromosome 6 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 6th chromosome and joining of the ends to form a ring. Associated symptoms and findings may vary greatly, depending upon the amount and location of lost chromosomal material and other factors. For example, there have been some reported cases in which children with Chromosome 6 Ring have few physical abnormalities and normal intelligence. However, many with the chromosomal abnormality are affected by growth retardation; varying degrees of mental retardation; mild to severe delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); and/or various abnormalities of the skull and facial (craniofacial) region. Such craniofacial features often include an unusually small head (microcephaly), malformed or low-set ears, and/or a small jaw (micrognathia). Eye (ocular) defects are also relatively common, such as drooping of the upper eyelids (ptosis), unusually small eyes (microphthalmia), abnormal deviation of one eye in relation to the other (strabismus), and/or other findings. Chromosome 6 Ring usually appears to result from spontaneous (de novo) errors very early in the development of the embryo that occur for unknown reasons (sporadically). | Overview of Chromosome 6 Ring. Chromosome 6 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 6th chromosome and joining of the ends to form a ring. Associated symptoms and findings may vary greatly, depending upon the amount and location of lost chromosomal material and other factors. For example, there have been some reported cases in which children with Chromosome 6 Ring have few physical abnormalities and normal intelligence. However, many with the chromosomal abnormality are affected by growth retardation; varying degrees of mental retardation; mild to severe delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); and/or various abnormalities of the skull and facial (craniofacial) region. Such craniofacial features often include an unusually small head (microcephaly), malformed or low-set ears, and/or a small jaw (micrognathia). Eye (ocular) defects are also relatively common, such as drooping of the upper eyelids (ptosis), unusually small eyes (microphthalmia), abnormal deviation of one eye in relation to the other (strabismus), and/or other findings. Chromosome 6 Ring usually appears to result from spontaneous (de novo) errors very early in the development of the embryo that occur for unknown reasons (sporadically). | 260 | Chromosome 6 Ring |
nord_260_1 | Symptoms of Chromosome 6 Ring | As noted above, associated symptoms and physical features may vary greatly in range and severity. Some cases have been reported in which children with Chromosome 6 Ring have normal intelligence and minimal physical abnormalities. However, others with the chromosomal abnormality may be affected by multiple characteristic features of the disorder. Such features frequently include growth retardation before and after birth (prenatal and postnatal growth retardation) and associated short stature; poor muscle tone (hypotonia), psychomotor delays, and mild to profound mental retardation; craniofacial malformations; and/or ocular defects. In some cases, additional physical abnormalities may also be present. Craniofacial malformations commonly associated with Chromosome 6 Ring include an unusually small head (microcephaly); low-set or malformed (dysplastic) ears; a small jaw (micrognathia); a flat nasal bridge; widely spaced eyes (ocular hypertelorism); and/or vertical skin folds (epicanthal folds) that may cover the eyes' inner corners. Some affected individuals may also have a highly arched roof of the mouth (palate); a short neck that may be webbed or have excessive (redundant) skin; and/or other craniofacial abnormalities. Chromosome 6 Ring is also frequently associated with additional ocular defects. These may include drooping of the upper eyelids (ptosis); unusually small eyes (microphthalmia); partial absence of ocular tissue from the colored region of the eyes (iris coloboma); abnormal deviation of one eye in relation to the other (strabismus); and/or involuntary, rapid, rhythmic eye movements (nystagmus). In some cases, other ocular abnormalities may be present, such as absence of the iris (aniridia); unusual largeness of the transparent region forming the front of the eyeball (megalocornea); elevated pressure of the fluid in the eye (glaucoma); and/or degenerative changes of the optic nerve (optic atrophy). (The optic nerve, also known as the second cranial nerve, transmits impulses from the innermost membrane at the back of the eye [retina] to the brain.) The degree of potential visual impairment depends upon the severity and/or combination of ocular defects present.Additional physical abnormalities have been reported in association with Chromosome 6 Ring. Such findings have included foot deformities (clubfoot); hip dislocation; widely spaced nipples; structural abnormalities of the heart (congenital heart defects); and/or other defects. In addition, in some cases, neurologic abnormalities may be present, such as absence of the thick band of nerve fibers normally joining the two hemispheres of the brain (agenesis of the corpus callosum); sudden episodes of uncontrolled electrical activity in the brain (seizures); and/or hydrocephalus. Hydrocephalus refers to obstructed flow or impaired absorption of cerebrospinal fluid (CSF), resulting in abnormal accumulation of CSF in the skull, usually under increased pressure. (CSF is the protective fluid that circulates through the four cavities [ventricles] of the brain, the canal containing the spinal cord [spinal canal], and the space between layers of the protective membranes [meninges] surrounding the brain and spinal cord [i.e., subarachnoid space].) During infancy or early childhood, hydrocephalus may be associated with rapid enlargement of the head (since bones of the skull have not yet fused); in addition, other findings may include difficulties feeding, vomiting, irritability, lack of normal reflex responses, severe drowsiness, seizures, and potentially life-threatening complications without treatment. | Symptoms of Chromosome 6 Ring. As noted above, associated symptoms and physical features may vary greatly in range and severity. Some cases have been reported in which children with Chromosome 6 Ring have normal intelligence and minimal physical abnormalities. However, others with the chromosomal abnormality may be affected by multiple characteristic features of the disorder. Such features frequently include growth retardation before and after birth (prenatal and postnatal growth retardation) and associated short stature; poor muscle tone (hypotonia), psychomotor delays, and mild to profound mental retardation; craniofacial malformations; and/or ocular defects. In some cases, additional physical abnormalities may also be present. Craniofacial malformations commonly associated with Chromosome 6 Ring include an unusually small head (microcephaly); low-set or malformed (dysplastic) ears; a small jaw (micrognathia); a flat nasal bridge; widely spaced eyes (ocular hypertelorism); and/or vertical skin folds (epicanthal folds) that may cover the eyes' inner corners. Some affected individuals may also have a highly arched roof of the mouth (palate); a short neck that may be webbed or have excessive (redundant) skin; and/or other craniofacial abnormalities. Chromosome 6 Ring is also frequently associated with additional ocular defects. These may include drooping of the upper eyelids (ptosis); unusually small eyes (microphthalmia); partial absence of ocular tissue from the colored region of the eyes (iris coloboma); abnormal deviation of one eye in relation to the other (strabismus); and/or involuntary, rapid, rhythmic eye movements (nystagmus). In some cases, other ocular abnormalities may be present, such as absence of the iris (aniridia); unusual largeness of the transparent region forming the front of the eyeball (megalocornea); elevated pressure of the fluid in the eye (glaucoma); and/or degenerative changes of the optic nerve (optic atrophy). (The optic nerve, also known as the second cranial nerve, transmits impulses from the innermost membrane at the back of the eye [retina] to the brain.) The degree of potential visual impairment depends upon the severity and/or combination of ocular defects present.Additional physical abnormalities have been reported in association with Chromosome 6 Ring. Such findings have included foot deformities (clubfoot); hip dislocation; widely spaced nipples; structural abnormalities of the heart (congenital heart defects); and/or other defects. In addition, in some cases, neurologic abnormalities may be present, such as absence of the thick band of nerve fibers normally joining the two hemispheres of the brain (agenesis of the corpus callosum); sudden episodes of uncontrolled electrical activity in the brain (seizures); and/or hydrocephalus. Hydrocephalus refers to obstructed flow or impaired absorption of cerebrospinal fluid (CSF), resulting in abnormal accumulation of CSF in the skull, usually under increased pressure. (CSF is the protective fluid that circulates through the four cavities [ventricles] of the brain, the canal containing the spinal cord [spinal canal], and the space between layers of the protective membranes [meninges] surrounding the brain and spinal cord [i.e., subarachnoid space].) During infancy or early childhood, hydrocephalus may be associated with rapid enlargement of the head (since bones of the skull have not yet fused); in addition, other findings may include difficulties feeding, vomiting, irritability, lack of normal reflex responses, severe drowsiness, seizures, and potentially life-threatening complications without treatment. | 260 | Chromosome 6 Ring |
nord_260_2 | Causes of Chromosome 6 Ring | Chromosome 6 Ring results from deletion (monosomy) of chromosomal material from the long arm (q) and short arm (p) of chromosome 6 and a joining of the ends to form a ring. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p,” a long arm identified by the letter “q,” and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered.As noted previously, in individuals with Chromosome 6 Ring, associated symptoms and findings may be extremely variable. Such clinical variability may depend upon the amount and specific location of material lost from the 6th chromosome, the stability of the ring chromosome during subsequent cellular divisions, the percentage of cells with the ring chromosome, and/or other factors. Evidence suggests that the ring chromosome typically appears to replace a normal 6th chromosome. In addition, in some cases, the abnormal chromosome within certain cells may have two centromeres (dicentric rings) or other structural abnormalities. As mentioned above, only a certain percentage of an affected individual's cells may have Chromosome 6 Ring abnormalities, while other cells may have a normal chromosomal makeup (a finding known as “chromosomal mosaicism”), affecting the variability of associated symptoms and findings.In most cases, Chromosome 6 Ring appears to be caused by spontaneous (de novo) errors very early in embryonic development. In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. However, chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of certain chromosomal abnormalities in one of the parents, such as Chromosome 6 Ring, potential mosaicism, or a “balanced translocation” involving chromosome 6. (Translocations occur when regions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring.) | Causes of Chromosome 6 Ring. Chromosome 6 Ring results from deletion (monosomy) of chromosomal material from the long arm (q) and short arm (p) of chromosome 6 and a joining of the ends to form a ring. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p,” a long arm identified by the letter “q,” and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered.As noted previously, in individuals with Chromosome 6 Ring, associated symptoms and findings may be extremely variable. Such clinical variability may depend upon the amount and specific location of material lost from the 6th chromosome, the stability of the ring chromosome during subsequent cellular divisions, the percentage of cells with the ring chromosome, and/or other factors. Evidence suggests that the ring chromosome typically appears to replace a normal 6th chromosome. In addition, in some cases, the abnormal chromosome within certain cells may have two centromeres (dicentric rings) or other structural abnormalities. As mentioned above, only a certain percentage of an affected individual's cells may have Chromosome 6 Ring abnormalities, while other cells may have a normal chromosomal makeup (a finding known as “chromosomal mosaicism”), affecting the variability of associated symptoms and findings.In most cases, Chromosome 6 Ring appears to be caused by spontaneous (de novo) errors very early in embryonic development. In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. However, chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of certain chromosomal abnormalities in one of the parents, such as Chromosome 6 Ring, potential mosaicism, or a “balanced translocation” involving chromosome 6. (Translocations occur when regions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring.) | 260 | Chromosome 6 Ring |
nord_260_3 | Affects of Chromosome 6 Ring | Since Chromosome 6 Ring was originally described, approximately 23 cases have been reported in the medical literature. In observed cases, males appear to be affected slightly more frequently than females. | Affects of Chromosome 6 Ring. Since Chromosome 6 Ring was originally described, approximately 23 cases have been reported in the medical literature. In observed cases, males appear to be affected slightly more frequently than females. | 260 | Chromosome 6 Ring |
nord_260_4 | Related disorders of Chromosome 6 Ring | Symptoms of the following disorders may be similar to those of Chromosome 6 Ring. Comparisons may be useful for a differential diagnosis: Additional chromosomal disorders may have features similar to those potentially associated with Chromosome 6 Ring. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | Related disorders of Chromosome 6 Ring. Symptoms of the following disorders may be similar to those of Chromosome 6 Ring. Comparisons may be useful for a differential diagnosis: Additional chromosomal disorders may have features similar to those potentially associated with Chromosome 6 Ring. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | 260 | Chromosome 6 Ring |
nord_260_5 | Diagnosis of Chromosome 6 Ring | In some cases, Chromosome 6 Ring may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Chromosome 6 Ring.The disorder may be diagnosed or confirmed after birth (postnatally) based upon thorough clinical evaluation, detection of characteristic physical findings, and chromosomal analysis. Additional specialized tests may also be performed to help detect and/or characterize certain abnormalities that may be associated with the disorder. | Diagnosis of Chromosome 6 Ring. In some cases, Chromosome 6 Ring may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Chromosome 6 Ring.The disorder may be diagnosed or confirmed after birth (postnatally) based upon thorough clinical evaluation, detection of characteristic physical findings, and chromosomal analysis. Additional specialized tests may also be performed to help detect and/or characterize certain abnormalities that may be associated with the disorder. | 260 | Chromosome 6 Ring |
nord_260_6 | Therapies of Chromosome 6 Ring | TreatmentThe treatment of Chromosome 6 Ring is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; eye specialists; physicians who specialize in neurologic disorders (neurologists), heart abnormalities (cardiologists), or disorders of the skeleton, muscles, joints, and related tissues (orthopedists); physical therapists; and/or other health care professionals.For some affected individuals, physicians may recommend surgical repair of certain craniofacial, ocular, and/or other malformations associated with the disorder. In addition, for those with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be necessary. The specific surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors.In affected individuals with hydrocephalus, shunting may be required to remove excess cerebrospinal fluid (CSF). Shunts are specialized devices that drain excess CSF away from the brain to another part of the body for absorption into the bloodstream.For individuals affected by seizures, treatment may include the administration of anticonvulsant medications to help prevent, reduce, or control seizures.Early intervention may be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive. | Therapies of Chromosome 6 Ring. TreatmentThe treatment of Chromosome 6 Ring is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; eye specialists; physicians who specialize in neurologic disorders (neurologists), heart abnormalities (cardiologists), or disorders of the skeleton, muscles, joints, and related tissues (orthopedists); physical therapists; and/or other health care professionals.For some affected individuals, physicians may recommend surgical repair of certain craniofacial, ocular, and/or other malformations associated with the disorder. In addition, for those with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be necessary. The specific surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors.In affected individuals with hydrocephalus, shunting may be required to remove excess cerebrospinal fluid (CSF). Shunts are specialized devices that drain excess CSF away from the brain to another part of the body for absorption into the bloodstream.For individuals affected by seizures, treatment may include the administration of anticonvulsant medications to help prevent, reduce, or control seizures.Early intervention may be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive. | 260 | Chromosome 6 Ring |
nord_261_0 | Overview of Chromosome 6, Partial Trisomy 6q | Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may vary in range and severity from case to case. However, many affected infants and children have slow physical development (growth retardation); mental retardation; malformations of the skull and facial (craniofacial) region; an unusually short, webbed neck; abnormal bending (flexion) or extension of certain joints in fixed postures (joint contractures); and/or other physical abnormalities. In most cases, Chromosome 6, Partial Trisomy 6q has been the result of a balanced translocation in one of the parents. | Overview of Chromosome 6, Partial Trisomy 6q. Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may vary in range and severity from case to case. However, many affected infants and children have slow physical development (growth retardation); mental retardation; malformations of the skull and facial (craniofacial) region; an unusually short, webbed neck; abnormal bending (flexion) or extension of certain joints in fixed postures (joint contractures); and/or other physical abnormalities. In most cases, Chromosome 6, Partial Trisomy 6q has been the result of a balanced translocation in one of the parents. | 261 | Chromosome 6, Partial Trisomy 6q |
nord_261_1 | Symptoms of Chromosome 6, Partial Trisomy 6q | As noted above, the symptoms and physical findings associated with Chromosome 6, Trisomy 6q may be variable. However, in many cases, the disorder is characterized by growth delays before and after birth, severe to profound mental retardation, a delay in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation), distinctive malformations of the skull and facial (craniofacial) region, musculoskeletal abnormalities, and/or additional physical features. Characteristic craniofacial abnormalities may include a small head (microcephaly); an abnormally flat face and back region of the head (occiput); “almond-shaped,” protruding, widely spaced eyes (ocular hypertelorism); and/or downwardly slanting eyelid folds (palpebral fissures). Affected individuals may also have a small, “bow-shaped” mouth with thin lips, a small jaw (micrognathia), incomplete closure of the roof of the mouth (cleft palate), a large, flat nose; malformed ears, and/or thin, arched eyebrows. In some cases, the fibrous joints (i.e., coronal and sagittal sutures) between certain bones in the front and the sides of the skull (frontal and parietal bones) may close prematurely (craniosynostosis), causing the head to grow upward (turricephaly). As a result, the head may appear unusually long, narrow, and pointed at the top, and the forehead may be abnormally prominent.Many individuals with Chromosome 6, Partial Trisomy 6q also have distinctive abnormalities of the neck. The neck may be unusually short and wide, with abnormal webbing across the front (anterior) and/or side (lateral), potentially restricting movement of the jaw and neck. In addition, the hairline may be abnormally low on the back of the neck (nape). Chromosome 6, Partial Trisomy 6q is also often associated with abnormal bending (flexion), extension, and fixation of certain joints (contractures), such as the fingers, wrists, and/or other regions (e.g., elbows, knees, hips), causing limitation of movement and abnormal postures. Affected individuals may also have webbing or fusion of certain fingers and/or toes (syndactyly), deformities in which the hands and/or feet are twisted out of shape or position (clubhands and/or clubfeet), abnormal curvature of the spine (scoliosis), reduced diameter of the chest; and/or widely spaced nipples.Genital abnormalities may also be present. In affected females, there may be underdevelopment of the skin folds surrounding the vaginal opening (hypoplastic labia). In affected males, genital abnormalities may include an abnormally small penis (micropenis), underdevelopment of the scrotum; abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis; and/or undescended testes (cryptorchidism). In rare cases, individuals with Chromosome 6, Partial Trisomy 6q may also have various internal organ malformations. These may include heart (cardiac), intestinal, kidney (renal), and/or brain (cerebral) abnormalities. | Symptoms of Chromosome 6, Partial Trisomy 6q. As noted above, the symptoms and physical findings associated with Chromosome 6, Trisomy 6q may be variable. However, in many cases, the disorder is characterized by growth delays before and after birth, severe to profound mental retardation, a delay in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation), distinctive malformations of the skull and facial (craniofacial) region, musculoskeletal abnormalities, and/or additional physical features. Characteristic craniofacial abnormalities may include a small head (microcephaly); an abnormally flat face and back region of the head (occiput); “almond-shaped,” protruding, widely spaced eyes (ocular hypertelorism); and/or downwardly slanting eyelid folds (palpebral fissures). Affected individuals may also have a small, “bow-shaped” mouth with thin lips, a small jaw (micrognathia), incomplete closure of the roof of the mouth (cleft palate), a large, flat nose; malformed ears, and/or thin, arched eyebrows. In some cases, the fibrous joints (i.e., coronal and sagittal sutures) between certain bones in the front and the sides of the skull (frontal and parietal bones) may close prematurely (craniosynostosis), causing the head to grow upward (turricephaly). As a result, the head may appear unusually long, narrow, and pointed at the top, and the forehead may be abnormally prominent.Many individuals with Chromosome 6, Partial Trisomy 6q also have distinctive abnormalities of the neck. The neck may be unusually short and wide, with abnormal webbing across the front (anterior) and/or side (lateral), potentially restricting movement of the jaw and neck. In addition, the hairline may be abnormally low on the back of the neck (nape). Chromosome 6, Partial Trisomy 6q is also often associated with abnormal bending (flexion), extension, and fixation of certain joints (contractures), such as the fingers, wrists, and/or other regions (e.g., elbows, knees, hips), causing limitation of movement and abnormal postures. Affected individuals may also have webbing or fusion of certain fingers and/or toes (syndactyly), deformities in which the hands and/or feet are twisted out of shape or position (clubhands and/or clubfeet), abnormal curvature of the spine (scoliosis), reduced diameter of the chest; and/or widely spaced nipples.Genital abnormalities may also be present. In affected females, there may be underdevelopment of the skin folds surrounding the vaginal opening (hypoplastic labia). In affected males, genital abnormalities may include an abnormally small penis (micropenis), underdevelopment of the scrotum; abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis; and/or undescended testes (cryptorchidism). In rare cases, individuals with Chromosome 6, Partial Trisomy 6q may also have various internal organ malformations. These may include heart (cardiac), intestinal, kidney (renal), and/or brain (cerebral) abnormalities. | 261 | Chromosome 6, Partial Trisomy 6q |
nord_261_2 | Causes of Chromosome 6, Partial Trisomy 6q | In individuals with Chromosome 6, Partial Trisomy 6q, all or a portion of the end (distal) region of the long arm (q) of chromosome 6 is present three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q.” Chromosomes are further subdivided into regions and bands that are numbered. For example, the distal region of the long arm of chromosome 6, which is referred to as “6q2,” includes bands 6q21 to 6q27.Reports indicate that, in those with the disorder, the duplicated portion of 6q2 has begun at various points (i.e., breakpoints) between bands 6q21 to 6q26 and may extend to the end (or “terminal”) of chromosome 6q (qter). It is possible that the range and severity of associated symptoms may depend on the specific length and location of the duplicated portion of 6q.In most reported cases, Chromosome 6, Partial Trisomy 6q has resulted from a balanced chromosomal rearrangement in one of the parents, usually of maternal origin. However, paternal chromosomal rearrangements have been reported in rare instances. The parental chromosomal rearrangement has usually been a “balanced translocation”. Translocations occur when portions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring. Rare cases have also been reported in which the parental chromosomal rearrangement has been an inversion. An inversion is characterized by breakage of a chromosome in two places and reunion of the segment in the reverse order. There have also been rare cases in which Chromosome 6, Partial Trisomy 6q has appeared to result from spontaneous (de novo) errors very early in embryonic development. In such de novo cases, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality.Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement in one of the parents. | Causes of Chromosome 6, Partial Trisomy 6q. In individuals with Chromosome 6, Partial Trisomy 6q, all or a portion of the end (distal) region of the long arm (q) of chromosome 6 is present three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q.” Chromosomes are further subdivided into regions and bands that are numbered. For example, the distal region of the long arm of chromosome 6, which is referred to as “6q2,” includes bands 6q21 to 6q27.Reports indicate that, in those with the disorder, the duplicated portion of 6q2 has begun at various points (i.e., breakpoints) between bands 6q21 to 6q26 and may extend to the end (or “terminal”) of chromosome 6q (qter). It is possible that the range and severity of associated symptoms may depend on the specific length and location of the duplicated portion of 6q.In most reported cases, Chromosome 6, Partial Trisomy 6q has resulted from a balanced chromosomal rearrangement in one of the parents, usually of maternal origin. However, paternal chromosomal rearrangements have been reported in rare instances. The parental chromosomal rearrangement has usually been a “balanced translocation”. Translocations occur when portions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring. Rare cases have also been reported in which the parental chromosomal rearrangement has been an inversion. An inversion is characterized by breakage of a chromosome in two places and reunion of the segment in the reverse order. There have also been rare cases in which Chromosome 6, Partial Trisomy 6q has appeared to result from spontaneous (de novo) errors very early in embryonic development. In such de novo cases, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality.Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement in one of the parents. | 261 | Chromosome 6, Partial Trisomy 6q |
nord_261_3 | Affects of Chromosome 6, Partial Trisomy 6q | Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder that appears to affect males and females equally. Approximately 30 cases have been reported in the medical literature. | Affects of Chromosome 6, Partial Trisomy 6q. Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder that appears to affect males and females equally. Approximately 30 cases have been reported in the medical literature. | 261 | Chromosome 6, Partial Trisomy 6q |
nord_261_4 | Related disorders of Chromosome 6, Partial Trisomy 6q | Additional chromosomal disorders may have features similar to those potentially associated with Chromosome 6, Partial Trisomy 6q. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | Related disorders of Chromosome 6, Partial Trisomy 6q. Additional chromosomal disorders may have features similar to those potentially associated with Chromosome 6, Partial Trisomy 6q. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | 261 | Chromosome 6, Partial Trisomy 6q |
nord_261_5 | Diagnosis of Chromosome 6, Partial Trisomy 6q | In some cases, Chromosome 6, Partial Trisomy 6q may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal studies performed on such fluid or tissue samples may reveal the presence o. Partial Trisomy 6q.Chromosome 6, Partial Trisomy 6q may also be diagnosed and/or confirmed after birth (postnatally) by a thorough clinical evaluation, characteristic physical findings, and chromosomal analysis. Additional specialized tests may also be performed to help detect and/or characterize certain abnormalities that may be associated with the disorder. | Diagnosis of Chromosome 6, Partial Trisomy 6q. In some cases, Chromosome 6, Partial Trisomy 6q may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal studies performed on such fluid or tissue samples may reveal the presence o. Partial Trisomy 6q.Chromosome 6, Partial Trisomy 6q may also be diagnosed and/or confirmed after birth (postnatally) by a thorough clinical evaluation, characteristic physical findings, and chromosomal analysis. Additional specialized tests may also be performed to help detect and/or characterize certain abnormalities that may be associated with the disorder. | 261 | Chromosome 6, Partial Trisomy 6q |
nord_261_6 | Therapies of Chromosome 6, Partial Trisomy 6q | TreatmentThe treatment of Chromosome 6, Partial Trisomy 6q is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians, surgeons; physicians who specialize in disorders of the skeleton, muscles, joints, and related tissues (orthopedists), physical therapists, and/or other health care professionals.For some affected individuals, physicians may recommend surgical correction of certain craniofacial, limb, genital, and/or internal organ malformations associated with the disorder. In addition, physical therapy, the use of certain orthopedic appliances, and/or additional orthopedic techniques, including surgery, may be advised to help manage musculoskeletal abnormalities, such as joint contractures and scoliosis. The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors.Early intervention may be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for the families of affected individuals. Other treatment for this disorder is symptomatic and supportive. | Therapies of Chromosome 6, Partial Trisomy 6q. TreatmentThe treatment of Chromosome 6, Partial Trisomy 6q is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians, surgeons; physicians who specialize in disorders of the skeleton, muscles, joints, and related tissues (orthopedists), physical therapists, and/or other health care professionals.For some affected individuals, physicians may recommend surgical correction of certain craniofacial, limb, genital, and/or internal organ malformations associated with the disorder. In addition, physical therapy, the use of certain orthopedic appliances, and/or additional orthopedic techniques, including surgery, may be advised to help manage musculoskeletal abnormalities, such as joint contractures and scoliosis. The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors.Early intervention may be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for the families of affected individuals. Other treatment for this disorder is symptomatic and supportive. | 261 | Chromosome 6, Partial Trisomy 6q |
nord_262_0 | Overview of Chromosome 7, Partial Monosomy 7p | Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the short arm (p) of chromosome 7 (7p). Associated symptoms and findings may be variable and may depend on the specific size and location of the deleted segment of 7p. However, in many cases, there is early closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), resulting in an abnormally shaped head. For example, depending on the specific sutures involved, the forehead may appear unusually “triangular shaped” (trigonocephaly) or the head may seem abnormally long and narrow with the top pointed or conical (turricephaly). Affected infants and children may also have additional malformations of the skull and facial (craniofacial) region. Such abnormalities may include an unusually small head (microcephaly), closely or widely set eyes (ocular hypotelorism or hypertelorism), downslanting eyelid folds (palpebral fissures), and/or other findings.Partial Monosomy 7p may also be characterized by additional physical features, such as growth deficiency, musculoskeletal abnormalities, genital defects, structural malformations of the heart that are present at birth (congenital heart defects), and/or other abnormalities. In addition, some affected individuals may have varying degrees of mental retardation and delays in the acquisition of skills requiring the coordination of mental and motor activities (psychomotor delays). Normal intelligence has also been reported.In most cases, Chromosome 7, Partial Monosomy 7p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons. | Overview of Chromosome 7, Partial Monosomy 7p. Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the short arm (p) of chromosome 7 (7p). Associated symptoms and findings may be variable and may depend on the specific size and location of the deleted segment of 7p. However, in many cases, there is early closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), resulting in an abnormally shaped head. For example, depending on the specific sutures involved, the forehead may appear unusually “triangular shaped” (trigonocephaly) or the head may seem abnormally long and narrow with the top pointed or conical (turricephaly). Affected infants and children may also have additional malformations of the skull and facial (craniofacial) region. Such abnormalities may include an unusually small head (microcephaly), closely or widely set eyes (ocular hypotelorism or hypertelorism), downslanting eyelid folds (palpebral fissures), and/or other findings.Partial Monosomy 7p may also be characterized by additional physical features, such as growth deficiency, musculoskeletal abnormalities, genital defects, structural malformations of the heart that are present at birth (congenital heart defects), and/or other abnormalities. In addition, some affected individuals may have varying degrees of mental retardation and delays in the acquisition of skills requiring the coordination of mental and motor activities (psychomotor delays). Normal intelligence has also been reported.In most cases, Chromosome 7, Partial Monosomy 7p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons. | 262 | Chromosome 7, Partial Monosomy 7p |
nord_262_1 | Symptoms of Chromosome 7, Partial Monosomy 7p | As noted above, the symptoms and physical findings associated with Chromosome 7, Partial Monosomy 7p may vary in range and severity from case to case. However, many affected individuals have growth delays before and after birth (prenatal and postnatal growth retardation). The syndrome may also be associated with varying degrees of psychomotor retardation and mental retardation; however, as noted earlier, some affected individuals may have normal intelligence.Partial Monosomy 7p is also commonly characterized by premature closure of one or more fibrous joints (cranial sutures) between particular bones in the skull (craniosynostosis), potentially resulting in deformity of the skull and an unusually shaped head. The degree and severity of craniosynostosis may be variable, depending on the specific cranial sutures involved. For example, according to reports in the medical literature, Partial Monosomy 7p may be associated with various types of craniosynostosis, such as trigonocephaly or turricephaly. In trigonocephaly, early closure of the suture between bones forming the forehead (i.e., metopic suture) may cause the forehead to appear unusually narrow, pointed, and “triangular” or “keel shaped, with an abnormally decreased distance between the eyes (ocular hypotelorism). Turricephaly (also known as oxycephaly or acrocephaly) is characterized by premature fusion of the suture (i.e., coronal suture) between bones forming the forehead and the upper sides of the skull (frontal and parietal bones) and possibly other sutures, causing the head to appear unusually long and narrow, with the top conical or pointed. In addition, the back portion of the head (occiput) may appear flattened and the forehead unusually prominent. In some cases, other craniofacial features associated with variable craniosynostosis may include an unusually small head (microcephaly), widely spaced eyes (ocular hypertelorism), and/or other findings; the skull may also appear relatively dissimilar from one side to the other (cranial asymmetry). In addition, in some instances, craniosynostosis, particularly that involving two or more cranial sutures, may lead to certain neurologic complications. Such complications may include hydrocephalus and abnormally increased pressure within the skull (intracranial pressure). Hydrocephalus is a condition in which obstructed flow or impaired absorption of cerebrospinal fluid (CSF) results in an abnormal accumulation of CSF, usually under increased pressure. CSF is the watery protective fluid that circulates through the cavities (ventricles) of the brain, the canal containing the spinal cord (spinal canal), and the space between layers of the protective membranes (meninges) surrounding the brain and spinal cord (i.e., subarachnoid space). Depending on the age at onset and other factors, associated symptoms may include sudden episodes of uncontrolled electrical activity in the brain (seizures), irritability, vomiting, headache, loss of coordination, deteriorating mental functioning, and/or other findings. In severe cases, potentially life-threatening complications may result.In some affected individuals, Partial Monosomy 7p may be associated with additional craniofacial abnormalities. Such features may include downwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); small, low-set, malformed (dysplastic) ears; a sunken nasal bridge (“saddle nose”); and/or other abnormalities.In some instances, Partial Monosomy 7p may also be characterized by musculoskeletal abnormalities. Reported features have included permanent flexion of one or more fingers (camptodactyly); unusually short hands; abnormalities of the thumbs; a deformity in which the top part of the foot is elevated and the heel turned outward (“clubfoot” [i.e., talipes calcaneovalgus]); limited range of movement of certain joints; and/or other findings.According to some reports, up to 50 percent of affected individuals may also have various congenital heart (cardiac) defects. Such cardiac defects may include an abnormal opening in the partition (septum) that separates the two lower chambers (ventricles) of the heart (ventricular septal defect [VSD]), an opening in the septum separating the two upper heart chambers (atrial septal defect), and/or other heart anomalies, allowing some oxygen-rich blood to recirculate through the lungs and potentially leading to rising blood pressure in the lungs (pulmonary hypertension). Associated symptoms and findings may vary, depending on the size, nature, and/or combination of heart malformations present and other factors. For example, in some cases, such as those with small isolated VSDs, no symptoms may be apparent (asymptomatic). However, in other instances, such as those with larger VSDs, associated symptoms and findings may include difficulties feeding, poor growth, difficult or labored breathing (dyspnea), profuse sweating, increased susceptibility to respiratory infections, impaired ability of the heart to pump blood efficiently to the lungs and the rest of the body (heart failure), enlargement of the heart, and/or other abnormalities. In severe cases, congenital heart disease may lead to potentially life-threatening complications.Partial Monosomy 7p may also be characterized by additional physical features. Some affected individuals may have abnormal skin ridge patterns of the palms of the hands. Additional reported findings have included a highly arched roof of the mouth (palate) or incomplete closure (clefting) of the palate (cleft palate); retraction or downward displacement of the tongue (glossoptosis); underdevelopment (hypoplasia) of the external genitals; kidney (renal) defects, such as renal hypoplasia; an abnormally small colon (microcolon); and/or other defects. | Symptoms of Chromosome 7, Partial Monosomy 7p. As noted above, the symptoms and physical findings associated with Chromosome 7, Partial Monosomy 7p may vary in range and severity from case to case. However, many affected individuals have growth delays before and after birth (prenatal and postnatal growth retardation). The syndrome may also be associated with varying degrees of psychomotor retardation and mental retardation; however, as noted earlier, some affected individuals may have normal intelligence.Partial Monosomy 7p is also commonly characterized by premature closure of one or more fibrous joints (cranial sutures) between particular bones in the skull (craniosynostosis), potentially resulting in deformity of the skull and an unusually shaped head. The degree and severity of craniosynostosis may be variable, depending on the specific cranial sutures involved. For example, according to reports in the medical literature, Partial Monosomy 7p may be associated with various types of craniosynostosis, such as trigonocephaly or turricephaly. In trigonocephaly, early closure of the suture between bones forming the forehead (i.e., metopic suture) may cause the forehead to appear unusually narrow, pointed, and “triangular” or “keel shaped, with an abnormally decreased distance between the eyes (ocular hypotelorism). Turricephaly (also known as oxycephaly or acrocephaly) is characterized by premature fusion of the suture (i.e., coronal suture) between bones forming the forehead and the upper sides of the skull (frontal and parietal bones) and possibly other sutures, causing the head to appear unusually long and narrow, with the top conical or pointed. In addition, the back portion of the head (occiput) may appear flattened and the forehead unusually prominent. In some cases, other craniofacial features associated with variable craniosynostosis may include an unusually small head (microcephaly), widely spaced eyes (ocular hypertelorism), and/or other findings; the skull may also appear relatively dissimilar from one side to the other (cranial asymmetry). In addition, in some instances, craniosynostosis, particularly that involving two or more cranial sutures, may lead to certain neurologic complications. Such complications may include hydrocephalus and abnormally increased pressure within the skull (intracranial pressure). Hydrocephalus is a condition in which obstructed flow or impaired absorption of cerebrospinal fluid (CSF) results in an abnormal accumulation of CSF, usually under increased pressure. CSF is the watery protective fluid that circulates through the cavities (ventricles) of the brain, the canal containing the spinal cord (spinal canal), and the space between layers of the protective membranes (meninges) surrounding the brain and spinal cord (i.e., subarachnoid space). Depending on the age at onset and other factors, associated symptoms may include sudden episodes of uncontrolled electrical activity in the brain (seizures), irritability, vomiting, headache, loss of coordination, deteriorating mental functioning, and/or other findings. In severe cases, potentially life-threatening complications may result.In some affected individuals, Partial Monosomy 7p may be associated with additional craniofacial abnormalities. Such features may include downwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); small, low-set, malformed (dysplastic) ears; a sunken nasal bridge (“saddle nose”); and/or other abnormalities.In some instances, Partial Monosomy 7p may also be characterized by musculoskeletal abnormalities. Reported features have included permanent flexion of one or more fingers (camptodactyly); unusually short hands; abnormalities of the thumbs; a deformity in which the top part of the foot is elevated and the heel turned outward (“clubfoot” [i.e., talipes calcaneovalgus]); limited range of movement of certain joints; and/or other findings.According to some reports, up to 50 percent of affected individuals may also have various congenital heart (cardiac) defects. Such cardiac defects may include an abnormal opening in the partition (septum) that separates the two lower chambers (ventricles) of the heart (ventricular septal defect [VSD]), an opening in the septum separating the two upper heart chambers (atrial septal defect), and/or other heart anomalies, allowing some oxygen-rich blood to recirculate through the lungs and potentially leading to rising blood pressure in the lungs (pulmonary hypertension). Associated symptoms and findings may vary, depending on the size, nature, and/or combination of heart malformations present and other factors. For example, in some cases, such as those with small isolated VSDs, no symptoms may be apparent (asymptomatic). However, in other instances, such as those with larger VSDs, associated symptoms and findings may include difficulties feeding, poor growth, difficult or labored breathing (dyspnea), profuse sweating, increased susceptibility to respiratory infections, impaired ability of the heart to pump blood efficiently to the lungs and the rest of the body (heart failure), enlargement of the heart, and/or other abnormalities. In severe cases, congenital heart disease may lead to potentially life-threatening complications.Partial Monosomy 7p may also be characterized by additional physical features. Some affected individuals may have abnormal skin ridge patterns of the palms of the hands. Additional reported findings have included a highly arched roof of the mouth (palate) or incomplete closure (clefting) of the palate (cleft palate); retraction or downward displacement of the tongue (glossoptosis); underdevelopment (hypoplasia) of the external genitals; kidney (renal) defects, such as renal hypoplasia; an abnormally small colon (microcolon); and/or other defects. | 262 | Chromosome 7, Partial Monosomy 7p |
nord_262_2 | Causes of Chromosome 7, Partial Monosomy 7p | In individuals with Chromosome 7, Partial Monosomy 7p, there is deletion (monosomy) of a portion of the short arm (p) of chromosome 7. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p,” a long arm identified by the letter “q,” and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the short arm of chromosome 7 (7p) includes bands 7p11-p15 and bands 7p21-p22; the end or “terminal” of 7p is known as “7pter.”According to reports in the medical literature, there is significant variation in the size and location of the deleted segment of 7p, potentially affecting the range and severity of associated symptoms and findings. Reported cases have included variable “distal” deletions extending to the terminal band (e.g., from 7p13-pter to 7p21p22-pter) and various “interstitial” deletions (e.g., from 7p13 or 7p15 to 7p21). (“Distal” indicates away or farthest from a particular point of reference, meaning the chromosome's centromere; “interstitial” means situated between, such as between other regions of a chromosome.) According to some investigators, evidence suggests that craniosynostosis in association with Partial Monosomy 7p appears to be due to partial or complete deletion of 7p21-p22 or, more rarely, monosomy of 7p13-p14. Further research is needed to learn more about the specific region(s) that may be responsible for expression of characteristic symptoms and findings in those with the chromosomal syndrome. In most cases, Chromosome 7, Partial Monosomy 7p appears to be caused by spontaneous (de novo) errors during early embryonic development that occur for unknown reasons. In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality.Rare cases have also been reported that appear to result from balanced chromosomal rearrangements in one of the parents. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring. Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced chromosomal rearrangement involving chromosome 7 in one of the parents. | Causes of Chromosome 7, Partial Monosomy 7p. In individuals with Chromosome 7, Partial Monosomy 7p, there is deletion (monosomy) of a portion of the short arm (p) of chromosome 7. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p,” a long arm identified by the letter “q,” and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the short arm of chromosome 7 (7p) includes bands 7p11-p15 and bands 7p21-p22; the end or “terminal” of 7p is known as “7pter.”According to reports in the medical literature, there is significant variation in the size and location of the deleted segment of 7p, potentially affecting the range and severity of associated symptoms and findings. Reported cases have included variable “distal” deletions extending to the terminal band (e.g., from 7p13-pter to 7p21p22-pter) and various “interstitial” deletions (e.g., from 7p13 or 7p15 to 7p21). (“Distal” indicates away or farthest from a particular point of reference, meaning the chromosome's centromere; “interstitial” means situated between, such as between other regions of a chromosome.) According to some investigators, evidence suggests that craniosynostosis in association with Partial Monosomy 7p appears to be due to partial or complete deletion of 7p21-p22 or, more rarely, monosomy of 7p13-p14. Further research is needed to learn more about the specific region(s) that may be responsible for expression of characteristic symptoms and findings in those with the chromosomal syndrome. In most cases, Chromosome 7, Partial Monosomy 7p appears to be caused by spontaneous (de novo) errors during early embryonic development that occur for unknown reasons. In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality.Rare cases have also been reported that appear to result from balanced chromosomal rearrangements in one of the parents. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring. Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced chromosomal rearrangement involving chromosome 7 in one of the parents. | 262 | Chromosome 7, Partial Monosomy 7p |
nord_262_3 | Affects of Chromosome 7, Partial Monosomy 7p | Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder that appears to affect males and females in relatively equal numbers. More than 30 cases have been reported in the medical literature. | Affects of Chromosome 7, Partial Monosomy 7p. Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder that appears to affect males and females in relatively equal numbers. More than 30 cases have been reported in the medical literature. | 262 | Chromosome 7, Partial Monosomy 7p |
nord_262_4 | Related disorders of Chromosome 7, Partial Monosomy 7p | Additional chromosomal disorders may be characterized by symptoms and findings similar to those associated with Chromosome 7, Partial Monosomy 7p. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | Related disorders of Chromosome 7, Partial Monosomy 7p. Additional chromosomal disorders may be characterized by symptoms and findings similar to those associated with Chromosome 7, Partial Monosomy 7p. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | 262 | Chromosome 7, Partial Monosomy 7p |
nord_262_5 | Diagnosis of Chromosome 7, Partial Monosomy 7p | In some cases, the diagnosis of Chromosome 7, Partial Monosomy 7p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain characteristic findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Partial Monosomy 7p.The syndrome may be diagnosed and/or confirmed after birth (postnatally) by a thorough clinical evaluation, identification of characteristic physical findings, and chromosomal analysis. Diagnostic evaluation may include various studies, including advanced imaging techniques, to help detect and/or characterize certain abnormalities that may be associated with the syndrome (e.g., particular craniofacial defects, musculoskeletal abnormalities, etc.). In addition, a thorough cardiac evaluation may be advised to detect any heart abnormalities that may be present. Such evaluation may include a thorough clinical examination, evaluation of heart and lung sounds through use of a stethoscope, and specialized tests that enable physicians to evaluate the structure and function of the heart (e.g., x-ray studies, electrocardiography [EKG], echocardiography). | Diagnosis of Chromosome 7, Partial Monosomy 7p. In some cases, the diagnosis of Chromosome 7, Partial Monosomy 7p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain characteristic findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Partial Monosomy 7p.The syndrome may be diagnosed and/or confirmed after birth (postnatally) by a thorough clinical evaluation, identification of characteristic physical findings, and chromosomal analysis. Diagnostic evaluation may include various studies, including advanced imaging techniques, to help detect and/or characterize certain abnormalities that may be associated with the syndrome (e.g., particular craniofacial defects, musculoskeletal abnormalities, etc.). In addition, a thorough cardiac evaluation may be advised to detect any heart abnormalities that may be present. Such evaluation may include a thorough clinical examination, evaluation of heart and lung sounds through use of a stethoscope, and specialized tests that enable physicians to evaluate the structure and function of the heart (e.g., x-ray studies, electrocardiography [EKG], echocardiography). | 262 | Chromosome 7, Partial Monosomy 7p |
nord_262_6 | Therapies of Chromosome 7, Partial Monosomy 7p | TreatmentThe treatment of Chromosome 7, Partial Monosomy 7p is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); heart specialists (cardiologists); physicians who diagnose and treat neurologic disorders (neurologists); and/or other health care professionals.For affected infants with craniosynostosis, depending on the number and type of cranial suture(s) involved and other factors, early surgery may be advised to help prevent abnormal shaping of the head, increase skull capacity, and/or prevent possible neurologic complications. Surgery may also be recommended for certain additional craniofacial malformations, musculoskeletal defects, and/or other physical abnormalities associated with the syndrome. In addition, for those with congenital heart defects, treatment may require the administration of certain medications, surgical intervention, and/or other measures. Surgical procedures performed will depend on the size, nature, severity, and combination of anatomical abnormalities, their associated symptoms, and other factors.Early intervention services may also be important in ensuring that affected children reach their potential. Special services that may be beneficial include special remedial education, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive. | Therapies of Chromosome 7, Partial Monosomy 7p. TreatmentThe treatment of Chromosome 7, Partial Monosomy 7p is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); heart specialists (cardiologists); physicians who diagnose and treat neurologic disorders (neurologists); and/or other health care professionals.For affected infants with craniosynostosis, depending on the number and type of cranial suture(s) involved and other factors, early surgery may be advised to help prevent abnormal shaping of the head, increase skull capacity, and/or prevent possible neurologic complications. Surgery may also be recommended for certain additional craniofacial malformations, musculoskeletal defects, and/or other physical abnormalities associated with the syndrome. In addition, for those with congenital heart defects, treatment may require the administration of certain medications, surgical intervention, and/or other measures. Surgical procedures performed will depend on the size, nature, severity, and combination of anatomical abnormalities, their associated symptoms, and other factors.Early intervention services may also be important in ensuring that affected children reach their potential. Special services that may be beneficial include special remedial education, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive. | 262 | Chromosome 7, Partial Monosomy 7p |
nord_263_0 | Overview of Chromosome 8, Monosomy 8p | Chromosome 8, Monosomy 8p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome. Associated symptoms and findings may vary greatly in range and severity from case to case. However, common features include growth deficiency; mental retardation; malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes' inner corners (epicanthal folds); heart (cardiac) abnormalities; and/or genital defects in affected males. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia). In most cases, Chromosome 8, Monosomy 8p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons. | Overview of Chromosome 8, Monosomy 8p. Chromosome 8, Monosomy 8p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome. Associated symptoms and findings may vary greatly in range and severity from case to case. However, common features include growth deficiency; mental retardation; malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes' inner corners (epicanthal folds); heart (cardiac) abnormalities; and/or genital defects in affected males. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia). In most cases, Chromosome 8, Monosomy 8p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons. | 263 | Chromosome 8, Monosomy 8p |
nord_263_1 | Symptoms of Chromosome 8, Monosomy 8p | As noted above, associated features may be extremely variable. However, in many cases, there are growth delays during fetal development (intrauterine growth retardation) as well as after birth (postnatal growth retardation). The syndrome is also commonly associated with mild mental retardation, although more severe retardation may be seen in some instances. In addition, other cases have been described in which affected individuals have normal intelligence. Monosomy 8p may also be characterized by delays in the acquisition of skills that require the coordination of mental and motor activities (psychomotor retardation). According to reports in the medical literature, many affected children may have speech difficulties. In addition, behavioral problems are commonly seen during childhood, such as abnormally active (hyperactive), impulsive behavior and/or outbursts of aggressiveness.Monosomy 8p is also typically characterized by craniofacial malformations that may be relatively subtle in some cases. In addition, a few cases have been reported in which such malformations are not apparent. Craniofacial features commonly seen with the syndrome include an unusually small head (microcephaly); a narrow skull and high forehead; low-set and/or malformed ears; and/or vertical skin folds that may cover the eyes' inner corners (epicanthal folds). As noted above, additional craniofacial abnormalities may also be present that may become less evident with age. Such features may include a flat, wide nasal bridge; a broad, short nose; a small, receding jaw (microretrognathia); and/or other abnormalities.In addition, many affected individuals may have an unusually short neck; a broad chest; and/or widely set, underdeveloped (hypoplastic) nipples. Males with the syndrome may also have genital abnormalities, such as a developmental defect in which the testes have failed to descend into the pouchlike structure known as the scrotum (cryptorchidism); deficient activity of the testes (hypogonadism); and/or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. In many cases, Monosomy 8p is also characterized by various structural malformations of the heart that are present at birth (congenital heart defects). Such defects may include an abnormal opening in the wall (septum) that separates the two lower or the two upper heart chambers (ventricular or atrial septal defects) or where the wall between the atria joins the wall between the ventricles (atrioventricular septal defect), allowing some oxygen-rich blood to recirculate through the lungs and potentially leading to rising blood pressure in the lungs (pulmonary hypertension). In some cases, additional cardiac defects may be present, such as underdevelopment (hypoplasia) of the right ventricle; abnormal narrowing (stenosis) of the opening between the pulmonary artery and the right ventricle (pulmonary stenosis); and/or other abnormalities. (The pulmonary artery carries oxygen-depleted blood from the right ventricle to the lungs, where the exchange of oxygen and carbon dioxide occurs. The aorta, the major artery of the body, arises from the left ventricle and supplies oxygen-rich blood to most arteries.)In those with congenital heart defects, associated symptoms and findings may vary, depending on the size, nature, and/or combination of heart malformations present and other factors. Some individuals may show no apparent symptoms (asymptomatic). However, in other cases, symptoms and findings may include difficulties feeding, poor growth, difficult or labored breathing (dyspnea), profuse sweating, recurrent lung infections, an impaired ability of the heart to pump blood efficiently to the lungs and the rest of the body (heart failure), bluish discoloration of the skin and mucous membranes (cyanosis), enlargement of the heart, and/or other abnormalities. In severe cases, congenital heart disease may lead to potentially life-threatening complications. | Symptoms of Chromosome 8, Monosomy 8p. As noted above, associated features may be extremely variable. However, in many cases, there are growth delays during fetal development (intrauterine growth retardation) as well as after birth (postnatal growth retardation). The syndrome is also commonly associated with mild mental retardation, although more severe retardation may be seen in some instances. In addition, other cases have been described in which affected individuals have normal intelligence. Monosomy 8p may also be characterized by delays in the acquisition of skills that require the coordination of mental and motor activities (psychomotor retardation). According to reports in the medical literature, many affected children may have speech difficulties. In addition, behavioral problems are commonly seen during childhood, such as abnormally active (hyperactive), impulsive behavior and/or outbursts of aggressiveness.Monosomy 8p is also typically characterized by craniofacial malformations that may be relatively subtle in some cases. In addition, a few cases have been reported in which such malformations are not apparent. Craniofacial features commonly seen with the syndrome include an unusually small head (microcephaly); a narrow skull and high forehead; low-set and/or malformed ears; and/or vertical skin folds that may cover the eyes' inner corners (epicanthal folds). As noted above, additional craniofacial abnormalities may also be present that may become less evident with age. Such features may include a flat, wide nasal bridge; a broad, short nose; a small, receding jaw (microretrognathia); and/or other abnormalities.In addition, many affected individuals may have an unusually short neck; a broad chest; and/or widely set, underdeveloped (hypoplastic) nipples. Males with the syndrome may also have genital abnormalities, such as a developmental defect in which the testes have failed to descend into the pouchlike structure known as the scrotum (cryptorchidism); deficient activity of the testes (hypogonadism); and/or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. In many cases, Monosomy 8p is also characterized by various structural malformations of the heart that are present at birth (congenital heart defects). Such defects may include an abnormal opening in the wall (septum) that separates the two lower or the two upper heart chambers (ventricular or atrial septal defects) or where the wall between the atria joins the wall between the ventricles (atrioventricular septal defect), allowing some oxygen-rich blood to recirculate through the lungs and potentially leading to rising blood pressure in the lungs (pulmonary hypertension). In some cases, additional cardiac defects may be present, such as underdevelopment (hypoplasia) of the right ventricle; abnormal narrowing (stenosis) of the opening between the pulmonary artery and the right ventricle (pulmonary stenosis); and/or other abnormalities. (The pulmonary artery carries oxygen-depleted blood from the right ventricle to the lungs, where the exchange of oxygen and carbon dioxide occurs. The aorta, the major artery of the body, arises from the left ventricle and supplies oxygen-rich blood to most arteries.)In those with congenital heart defects, associated symptoms and findings may vary, depending on the size, nature, and/or combination of heart malformations present and other factors. Some individuals may show no apparent symptoms (asymptomatic). However, in other cases, symptoms and findings may include difficulties feeding, poor growth, difficult or labored breathing (dyspnea), profuse sweating, recurrent lung infections, an impaired ability of the heart to pump blood efficiently to the lungs and the rest of the body (heart failure), bluish discoloration of the skin and mucous membranes (cyanosis), enlargement of the heart, and/or other abnormalities. In severe cases, congenital heart disease may lead to potentially life-threatening complications. | 263 | Chromosome 8, Monosomy 8p |
nord_263_2 | Causes of Chromosome 8, Monosomy 8p | In cases of Chromosome 8, Monosomy 8p, there is deletion (monosomy) of an end (distal) portion of the short arm (p) of chromosome 8. “Distal” indicates away or farthest from a particular point of reference, meaning the chromosome's centromere (described below). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p,” a long arm identified by the letter “q,” and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the distal portion of the short arm of chromosome 8 (8p), sometimes referred to as “8p”, includes bands 8p21 through 8p23; the end or “terminal” of 8p is known as “8pter”.In individuals with this chromosomal syndrome, the length and location of the monosomic region of 8p may vary, potentially affecting the range and severity of associated symptoms and findings. Reported cases have included deletions beginning within bands 8p21, 8p22, or 8p23 (breakpoint) that may extend to 8pter (i.e., terminal deletions) or may be interstitial. (“Interstitial” in this context means situated between, such as between other regions of a chromosome.) A few cases have also been reported in which certain, more “proximal” interstitial deletions of 8p may be associated with particular features characteristic of the syndrome. (Proximal, which is the opposite of the term distal, indicates closer to or nearest a particular point of reference [i.e., the centromere].) Researchers have mapped a gene (known as “GATA4”) to the short arm of chromosome 8 (8p23.1) that is thought to control expression of other genes involved in cardiac development. Evidence suggests that deficiency or disruption of GATA4 may contribute to certain congenital heart defects seen in some individuals with distal deletions of 8p involving 8p23.1. For example, in a study of patients with deletions of band 8p23.1, researchers demonstrated that affected individuals with associated heart defects had only one copy of the GATA4 gene, while another patient without known cardiac defects had both copies of the gene. In most cases, Chromosome 8, Monosomy 8p appears to be caused by spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. Rare cases have also been reported that appear to result from a “balanced translocation” in one of the parents. Translocations occur when portions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring. Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement involving chromosome 8 in one of the parents. | Causes of Chromosome 8, Monosomy 8p. In cases of Chromosome 8, Monosomy 8p, there is deletion (monosomy) of an end (distal) portion of the short arm (p) of chromosome 8. “Distal” indicates away or farthest from a particular point of reference, meaning the chromosome's centromere (described below). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p,” a long arm identified by the letter “q,” and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the distal portion of the short arm of chromosome 8 (8p), sometimes referred to as “8p”, includes bands 8p21 through 8p23; the end or “terminal” of 8p is known as “8pter”.In individuals with this chromosomal syndrome, the length and location of the monosomic region of 8p may vary, potentially affecting the range and severity of associated symptoms and findings. Reported cases have included deletions beginning within bands 8p21, 8p22, or 8p23 (breakpoint) that may extend to 8pter (i.e., terminal deletions) or may be interstitial. (“Interstitial” in this context means situated between, such as between other regions of a chromosome.) A few cases have also been reported in which certain, more “proximal” interstitial deletions of 8p may be associated with particular features characteristic of the syndrome. (Proximal, which is the opposite of the term distal, indicates closer to or nearest a particular point of reference [i.e., the centromere].) Researchers have mapped a gene (known as “GATA4”) to the short arm of chromosome 8 (8p23.1) that is thought to control expression of other genes involved in cardiac development. Evidence suggests that deficiency or disruption of GATA4 may contribute to certain congenital heart defects seen in some individuals with distal deletions of 8p involving 8p23.1. For example, in a study of patients with deletions of band 8p23.1, researchers demonstrated that affected individuals with associated heart defects had only one copy of the GATA4 gene, while another patient without known cardiac defects had both copies of the gene. In most cases, Chromosome 8, Monosomy 8p appears to be caused by spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. Rare cases have also been reported that appear to result from a “balanced translocation” in one of the parents. Translocations occur when portions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring. Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement involving chromosome 8 in one of the parents. | 263 | Chromosome 8, Monosomy 8p |
nord_263_3 | Affects of Chromosome 8, Monosomy 8p | Chromosome 8, Monosomy 8p appears to affect males and females in relatively equal numbers. Since the disorder was originally described in 1973, over 20 cases have been reported in the medical literature. | Affects of Chromosome 8, Monosomy 8p. Chromosome 8, Monosomy 8p appears to affect males and females in relatively equal numbers. Since the disorder was originally described in 1973, over 20 cases have been reported in the medical literature. | 263 | Chromosome 8, Monosomy 8p |
nord_263_4 | Related disorders of Chromosome 8, Monosomy 8p | Symptoms of the following disorders may be similar to those of Chromosome 8, Monosomy 8p. Comparisons may be useful for a differential diagnosis: Velocardiofacial syndrome (VCFS) is a rare genetic disorder characterized by a spectrum of abnormalities that may vary from case to case. The disorder is most frequently characterized by distinctive craniofacial features, including incomplete closure of the roof of the mouth (cleft palate), narrow eyelid folds (palpebral fissures), a prominent nose, and jaw malformations; congenital heart defects, particularly ventricular septal defects; low tone of voluntary (skeletal) muscles (hypotonia) during infancy; and/or learning disabilities. Less common features may include mental retardation; short stature; temporarily low levels of calcium in the blood during the newborn period (neonatal hypocalcemia); unusually slender hands and fingers; and inguinal or umbilical hernia. In infants with an inguinal hernia, there is protrusion (herniation) of a portion of the intestine into the canal that passes through lower muscular layers of the abdominal wall. (In males, the inguinal canal is the tubular passageway through which the testes normally descend from the abdomen into the scrotum before birth.) An umbilical hernia is a skin-covered protrusion of intestine and the fold of fatty membrane in front of the intestine (omentum) through a defect in the abdominal wall at the navel (i.e., the umbilicus, where the umbilical cord joined the fetal abdomen). Occasional abnormalities associated with VCFS may include clouding of the lenses of the eyes (cataracts); abnormalities of blood vessels of the nerve-rich innermost membranes of the eyes (tortuous retinal vessels); underdevelopment or absence of the thymus; and/or other features. (The thymus, a lymphoid tissue organ, is thought to play a role in the body's immune response until puberty.) VCFS may appear to occur randomly for unknown reasons (sporadically) or may be familial, with autosomal dominant inheritance. The disorder often appears to result from deletion of part of the long arm of chromosome 22 (22q11). However, some cases have also been described in which chromosomal abnormalities other than monosomy 22q11 have been associated with features characteristic of VCFS; for example, in one case, a child with deletion of 8p23.1-pter had features similar to those seen in VCFS. (For further information on this disorder, choose “velocardiofacial” as your search term in the Rare Disease Database.) Additional chromosomal disorders may be characterized by symptoms and findings similar to those associated with Chromosome 8, Monosomy 8p. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | Related disorders of Chromosome 8, Monosomy 8p. Symptoms of the following disorders may be similar to those of Chromosome 8, Monosomy 8p. Comparisons may be useful for a differential diagnosis: Velocardiofacial syndrome (VCFS) is a rare genetic disorder characterized by a spectrum of abnormalities that may vary from case to case. The disorder is most frequently characterized by distinctive craniofacial features, including incomplete closure of the roof of the mouth (cleft palate), narrow eyelid folds (palpebral fissures), a prominent nose, and jaw malformations; congenital heart defects, particularly ventricular septal defects; low tone of voluntary (skeletal) muscles (hypotonia) during infancy; and/or learning disabilities. Less common features may include mental retardation; short stature; temporarily low levels of calcium in the blood during the newborn period (neonatal hypocalcemia); unusually slender hands and fingers; and inguinal or umbilical hernia. In infants with an inguinal hernia, there is protrusion (herniation) of a portion of the intestine into the canal that passes through lower muscular layers of the abdominal wall. (In males, the inguinal canal is the tubular passageway through which the testes normally descend from the abdomen into the scrotum before birth.) An umbilical hernia is a skin-covered protrusion of intestine and the fold of fatty membrane in front of the intestine (omentum) through a defect in the abdominal wall at the navel (i.e., the umbilicus, where the umbilical cord joined the fetal abdomen). Occasional abnormalities associated with VCFS may include clouding of the lenses of the eyes (cataracts); abnormalities of blood vessels of the nerve-rich innermost membranes of the eyes (tortuous retinal vessels); underdevelopment or absence of the thymus; and/or other features. (The thymus, a lymphoid tissue organ, is thought to play a role in the body's immune response until puberty.) VCFS may appear to occur randomly for unknown reasons (sporadically) or may be familial, with autosomal dominant inheritance. The disorder often appears to result from deletion of part of the long arm of chromosome 22 (22q11). However, some cases have also been described in which chromosomal abnormalities other than monosomy 22q11 have been associated with features characteristic of VCFS; for example, in one case, a child with deletion of 8p23.1-pter had features similar to those seen in VCFS. (For further information on this disorder, choose “velocardiofacial” as your search term in the Rare Disease Database.) Additional chromosomal disorders may be characterized by symptoms and findings similar to those associated with Chromosome 8, Monosomy 8p. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | 263 | Chromosome 8, Monosomy 8p |
nord_263_5 | Diagnosis of Chromosome 8, Monosomy 8p | In some instances, the diagnosis of Chromosome 8, Monosomy 8p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain characteristic findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Monosomy 8p2.Chromosome 8, Monosomy 8p2 may be diagnosed and/or confirmed after birth (postnatally) by a thorough clinical evaluation, identification of characteristic physical findings, chromosomal analysis, and other specialized tests. A thorough cardiac evaluation may also be advised to detect any heart abnormalities that may be present. Such evaluation may include a thorough clinical examination; evaluation of heart and lung sounds with a stethoscope; x-ray studies; tests that record the electrical activities of heart muscle (electrocardiography [EKG]); a technique in which sound waves are directed toward the heart, enabling evaluation of cardiac motion and structure (echocardiogram); or other measures.In turn, because congenital heart defects are commonly associated with Monosomy 8p, chromosomal analysis is suggested for all infants who are diagnosed with certain cardiac anomalies in association with facial malformations or an unusually small head (microcephaly) or both. | Diagnosis of Chromosome 8, Monosomy 8p. In some instances, the diagnosis of Chromosome 8, Monosomy 8p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain characteristic findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Monosomy 8p2.Chromosome 8, Monosomy 8p2 may be diagnosed and/or confirmed after birth (postnatally) by a thorough clinical evaluation, identification of characteristic physical findings, chromosomal analysis, and other specialized tests. A thorough cardiac evaluation may also be advised to detect any heart abnormalities that may be present. Such evaluation may include a thorough clinical examination; evaluation of heart and lung sounds with a stethoscope; x-ray studies; tests that record the electrical activities of heart muscle (electrocardiography [EKG]); a technique in which sound waves are directed toward the heart, enabling evaluation of cardiac motion and structure (echocardiogram); or other measures.In turn, because congenital heart defects are commonly associated with Monosomy 8p, chromosomal analysis is suggested for all infants who are diagnosed with certain cardiac anomalies in association with facial malformations or an unusually small head (microcephaly) or both. | 263 | Chromosome 8, Monosomy 8p |
nord_263_6 | Therapies of Chromosome 8, Monosomy 8p | TreatmentThe treatment of Chromosome 8, Monosomy 8p is directed toward the specific symptoms that are apparent in each individual. Such disease management may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; heart specialists (cardiologists); physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues (orthopedists); and/or other health care professionals.For affected individuals with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be required. In some cases, physicians may also recommend surgical repair or correction of certain craniofacial malformations, genital defects, and/or other malformations associated with the disorder. The specific surgical procedures performed will depend on the size, nature, severity, and combination of anatomical abnormalities, their associated symptoms, and other factors.Early intervention services may also be important in ensuring that affected children reach their potential. Special services that may be beneficial include special remedial education, speech therapy, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for families of affected children. Other treatment for this disorder is symptomatic and supportive. | Therapies of Chromosome 8, Monosomy 8p. TreatmentThe treatment of Chromosome 8, Monosomy 8p is directed toward the specific symptoms that are apparent in each individual. Such disease management may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; heart specialists (cardiologists); physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues (orthopedists); and/or other health care professionals.For affected individuals with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be required. In some cases, physicians may also recommend surgical repair or correction of certain craniofacial malformations, genital defects, and/or other malformations associated with the disorder. The specific surgical procedures performed will depend on the size, nature, severity, and combination of anatomical abnormalities, their associated symptoms, and other factors.Early intervention services may also be important in ensuring that affected children reach their potential. Special services that may be beneficial include special remedial education, speech therapy, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for families of affected children. Other treatment for this disorder is symptomatic and supportive. | 263 | Chromosome 8, Monosomy 8p |
nord_264_0 | Overview of Chromosome 9 Ring | Chromosome 9 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 9th chromosome and joining of the ends to form a ring. Associated symptoms and findings may vary, depending upon the amount and location of lost chromosomal material and other factors. Some affected individuals may have variable malformations of the skull and facial (craniofacial) region. However, in others with the chromosomal abnormality, such features may not be apparent. Chromosome 9 Ring may also be characterized by additional physical features in some cases, including growth retardation, heart defects, genital abnormalities, and/or other findings. In addition, many affected individuals have moderate to severe intellectual disability; however, in some instances, intelligence may be in the low normal range. Chromosome 9 Ring usually appears to result from spontaneous (de novo) errors very early in the development of the embryo that occur for unknown reasons (sporadically). | Overview of Chromosome 9 Ring. Chromosome 9 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 9th chromosome and joining of the ends to form a ring. Associated symptoms and findings may vary, depending upon the amount and location of lost chromosomal material and other factors. Some affected individuals may have variable malformations of the skull and facial (craniofacial) region. However, in others with the chromosomal abnormality, such features may not be apparent. Chromosome 9 Ring may also be characterized by additional physical features in some cases, including growth retardation, heart defects, genital abnormalities, and/or other findings. In addition, many affected individuals have moderate to severe intellectual disability; however, in some instances, intelligence may be in the low normal range. Chromosome 9 Ring usually appears to result from spontaneous (de novo) errors very early in the development of the embryo that occur for unknown reasons (sporadically). | 264 | Chromosome 9 Ring |
nord_264_1 | Symptoms of Chromosome 9 Ring | As noted above, Chromosome 9 Ring may be characterized by various craniofacial malformations; however, in some cases, such features may not be apparent. Craniofacial defects associated with Chromosome 9 Ring may include an abnormally small head (microcephaly) and/or premature fusion of the fibrous joint (suture) between bones forming the forehead (metopic suture), resulting in an unusually narrow, pointed, “triangular” or “keel-shaped” forehead (trigonocephaly) and closely spaced eyes (ocular hypotelorism). Some affected individuals may also have abnormally slanting eyelid folds (palpebral fissures), slight protrusion of the eyes (exophthalmos), an exaggerated arch to the eyebrows, a small jaw (micrognathia) and small chin, and/or a short neck. In some cases, Chromosome 9 Ring may also be associated with growth retardation after birth; various structural malformations of the heart (congenital heart defects), such as an abnormal opening in the partition (septum) that normally separates the lower chambers (ventricles) of the heart (ventricular septal defect); and/or variable skeletal abnormalities. Some affected males may also have genital abnormalities, including ambiguous genitalia or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. Additional physical abnormalities have also been reported in association with Chromosome 9 Ring. These have included incomplete closure of the roof of the mouth (cleft palate); abnormal bending (clinodactyly) of certain fingers; a single crease across the palms of the hands; and/or a condition known as gastroesophageal reflux. The latter is characterized by abnormal backflow (reflux) of stomach acid into the esophagus, causing inflammation of and possible damage to the esophageal lining. Chromosome 9 Ring is commonly characterized by moderate to severe intellectual disability. However, some affected individuals may have intelligence in the low normal range. Those with the disorder may also show variable delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation) and/or behavioral abnormalities, such as agitated or withdrawn, introverted behavior. | Symptoms of Chromosome 9 Ring. As noted above, Chromosome 9 Ring may be characterized by various craniofacial malformations; however, in some cases, such features may not be apparent. Craniofacial defects associated with Chromosome 9 Ring may include an abnormally small head (microcephaly) and/or premature fusion of the fibrous joint (suture) between bones forming the forehead (metopic suture), resulting in an unusually narrow, pointed, “triangular” or “keel-shaped” forehead (trigonocephaly) and closely spaced eyes (ocular hypotelorism). Some affected individuals may also have abnormally slanting eyelid folds (palpebral fissures), slight protrusion of the eyes (exophthalmos), an exaggerated arch to the eyebrows, a small jaw (micrognathia) and small chin, and/or a short neck. In some cases, Chromosome 9 Ring may also be associated with growth retardation after birth; various structural malformations of the heart (congenital heart defects), such as an abnormal opening in the partition (septum) that normally separates the lower chambers (ventricles) of the heart (ventricular septal defect); and/or variable skeletal abnormalities. Some affected males may also have genital abnormalities, including ambiguous genitalia or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. Additional physical abnormalities have also been reported in association with Chromosome 9 Ring. These have included incomplete closure of the roof of the mouth (cleft palate); abnormal bending (clinodactyly) of certain fingers; a single crease across the palms of the hands; and/or a condition known as gastroesophageal reflux. The latter is characterized by abnormal backflow (reflux) of stomach acid into the esophagus, causing inflammation of and possible damage to the esophageal lining. Chromosome 9 Ring is commonly characterized by moderate to severe intellectual disability. However, some affected individuals may have intelligence in the low normal range. Those with the disorder may also show variable delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation) and/or behavioral abnormalities, such as agitated or withdrawn, introverted behavior. | 264 | Chromosome 9 Ring |
nord_264_2 | Causes of Chromosome 9 Ring | Chromosome 9 Ring is caused by deletion of chromosomal material from the end (distal) regions of the short arm (p) and long arm (q) of chromosome 9 and joining of the ends to form a ring. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p”, a long arm identified by the letter “q” and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere.As noted above, in those with Chromosome 9 Ring, associated symptoms and findings may vary from case to case. Such clinical variability may depend upon the amount and specific location of material lost from the 9th chromosome, the stability of the ring chromosome during subsequent cellular divisions, and/or other factors. For example, in some cases, only a certain percentage of an affected individual's cells may have Chromosome 9 Ring, while other cells may have a normal chromosomal makeup (a finding known as “chromosomal mosaicism”), affecting the variability of associated symptoms and physical features.Chromosome 9 Ring usually appears to be caused by spontaneous (de novo) errors very early during embryonic development. In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. However, it is theoretically possible that a parent of an affected individual also has Chromosome 9 Ring in all or some cells with few apparent symptoms. In such instances, it is believed that Chromosome 9 Ring may have been inherited and that the chances are greater of having another child with the chromosomal abnormality. Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of certain chromosomal abnormalities in one of the parents, such as Chromosome 9 Ring, mosaicism, or a balanced chromosomal rearrangement involving chromosome 9. | Causes of Chromosome 9 Ring. Chromosome 9 Ring is caused by deletion of chromosomal material from the end (distal) regions of the short arm (p) and long arm (q) of chromosome 9 and joining of the ends to form a ring. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p”, a long arm identified by the letter “q” and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere.As noted above, in those with Chromosome 9 Ring, associated symptoms and findings may vary from case to case. Such clinical variability may depend upon the amount and specific location of material lost from the 9th chromosome, the stability of the ring chromosome during subsequent cellular divisions, and/or other factors. For example, in some cases, only a certain percentage of an affected individual's cells may have Chromosome 9 Ring, while other cells may have a normal chromosomal makeup (a finding known as “chromosomal mosaicism”), affecting the variability of associated symptoms and physical features.Chromosome 9 Ring usually appears to be caused by spontaneous (de novo) errors very early during embryonic development. In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. However, it is theoretically possible that a parent of an affected individual also has Chromosome 9 Ring in all or some cells with few apparent symptoms. In such instances, it is believed that Chromosome 9 Ring may have been inherited and that the chances are greater of having another child with the chromosomal abnormality. Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of certain chromosomal abnormalities in one of the parents, such as Chromosome 9 Ring, mosaicism, or a balanced chromosomal rearrangement involving chromosome 9. | 264 | Chromosome 9 Ring |
nord_264_3 | Affects of Chromosome 9 Ring | Chromosome 9 Ring is a rare chromosomal abnormality that is thought to affect males and females in relatively equal numbers. Since the disorder was originally described, more than 12 cases have been reported in the medical literature. | Affects of Chromosome 9 Ring. Chromosome 9 Ring is a rare chromosomal abnormality that is thought to affect males and females in relatively equal numbers. Since the disorder was originally described, more than 12 cases have been reported in the medical literature. | 264 | Chromosome 9 Ring |
nord_264_4 | Related disorders of Chromosome 9 Ring | Symptoms of the following disorders may be similar to those of Chromosome 9 Ring. Comparisons may be useful for a differential diagnosis:Chromosome 9, Partial Monosomy 9p is a chromosomal disorder characterized by deletion (monosomy) of part of the end (distal) region of the short arm (p) of chromosome 9 (i.e., with the breakpoint usually located within band 9p22). Characteristic features include variable degrees of intellectual disability; craniofacial, limb, heart (cardiac), and/or genital abnormalities; and/or other physical malformations. Common craniofacial defects include a “triangular-” or “keel-shaped” forehead (trigonocephaly); a short nose, flattened nasal bridge, and upturned nostrils (anteverted nares); prominent eyes; upwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); highly arched eyebrows; a small jaw (micrognathia); a short, broad neck; and/or other features. In most cases, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early during embryonic development. (For further information, choose “Monosomy 9p” as your search term in the Rare Disease Database.)Additional chromosomal disorders may have symptoms and findings similar to those potentially associated with Chromosome 9 Ring. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | Related disorders of Chromosome 9 Ring. Symptoms of the following disorders may be similar to those of Chromosome 9 Ring. Comparisons may be useful for a differential diagnosis:Chromosome 9, Partial Monosomy 9p is a chromosomal disorder characterized by deletion (monosomy) of part of the end (distal) region of the short arm (p) of chromosome 9 (i.e., with the breakpoint usually located within band 9p22). Characteristic features include variable degrees of intellectual disability; craniofacial, limb, heart (cardiac), and/or genital abnormalities; and/or other physical malformations. Common craniofacial defects include a “triangular-” or “keel-shaped” forehead (trigonocephaly); a short nose, flattened nasal bridge, and upturned nostrils (anteverted nares); prominent eyes; upwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); highly arched eyebrows; a small jaw (micrognathia); a short, broad neck; and/or other features. In most cases, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early during embryonic development. (For further information, choose “Monosomy 9p” as your search term in the Rare Disease Database.)Additional chromosomal disorders may have symptoms and findings similar to those potentially associated with Chromosome 9 Ring. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | 264 | Chromosome 9 Ring |
nord_264_5 | Diagnosis of Chromosome 9 Ring | In some instances, Chromosome 9 Ring may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other developmental abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Chromosome 9 Ring.In most cases, Chromosome 9 Ring is diagnosed or confirmed after birth (postnatally) based upon a thorough clinical evaluation, characteristic physical findings, and chromosomal analysis. Various specialized tests may also be performed to help detect and/or characterize certain abnormalities that may be associated with the disorder. For example, a thorough cardiac evaluation may be advised to detect any heart abnormalities that may be present. Such evaluations may include a thorough clinical examination, evaluation of heart and lung sounds through use of a stethoscope, and specialized tests that enable physicians to evaluate the structure and function of the heart (e.g., x-ray studies, electrocardiography [EKG]), echocardiography). | Diagnosis of Chromosome 9 Ring. In some instances, Chromosome 9 Ring may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other developmental abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Chromosome 9 Ring.In most cases, Chromosome 9 Ring is diagnosed or confirmed after birth (postnatally) based upon a thorough clinical evaluation, characteristic physical findings, and chromosomal analysis. Various specialized tests may also be performed to help detect and/or characterize certain abnormalities that may be associated with the disorder. For example, a thorough cardiac evaluation may be advised to detect any heart abnormalities that may be present. Such evaluations may include a thorough clinical examination, evaluation of heart and lung sounds through use of a stethoscope, and specialized tests that enable physicians to evaluate the structure and function of the heart (e.g., x-ray studies, electrocardiography [EKG]), echocardiography). | 264 | Chromosome 9 Ring |
nord_264_6 | Therapies of Chromosome 9 Ring | TreatmentThe treatment of Chromosome 9 Ring is directed toward the specific symptoms that are apparent in each individual. Such disease management may require the coordinated efforts of a team of medical professionals, such as pediatricians; physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues (orthopedists); heart specialists (cardiologists); and/or other health care professionals.For some affected individuals, physicians may recommend surgical repair or correction of certain craniofacial, genital, and/or other malformations associated with the disorder. In addition, for those with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be required. The specific surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors.Early intervention may also be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education, speech therapy, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive. | Therapies of Chromosome 9 Ring. TreatmentThe treatment of Chromosome 9 Ring is directed toward the specific symptoms that are apparent in each individual. Such disease management may require the coordinated efforts of a team of medical professionals, such as pediatricians; physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues (orthopedists); heart specialists (cardiologists); and/or other health care professionals.For some affected individuals, physicians may recommend surgical repair or correction of certain craniofacial, genital, and/or other malformations associated with the disorder. In addition, for those with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be required. The specific surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors.Early intervention may also be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education, speech therapy, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive. | 264 | Chromosome 9 Ring |
nord_265_0 | Overview of Chromosome 9, Partial Monosomy 9p | Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include intellectual disability; distinctive malformations of the skull and facial (craniofacial) region, such as an abnormally shaped forehead (i.e., trigonocephaly), upwardly slanting eyelid folds (palpebral fissures), and unusually flat midfacial regions (midfacial hypoplasia); structural malformations of the heart (congenital heart defects); genital defects in affected males and females; and/or additional physical abnormalities. In most cases, Chromosome 9, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). | Overview of Chromosome 9, Partial Monosomy 9p. Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include intellectual disability; distinctive malformations of the skull and facial (craniofacial) region, such as an abnormally shaped forehead (i.e., trigonocephaly), upwardly slanting eyelid folds (palpebral fissures), and unusually flat midfacial regions (midfacial hypoplasia); structural malformations of the heart (congenital heart defects); genital defects in affected males and females; and/or additional physical abnormalities. In most cases, Chromosome 9, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). | 265 | Chromosome 9, Partial Monosomy 9p |
nord_265_1 | Symptoms of Chromosome 9, Partial Monosomy 9p | Most infants with Chromosome 9, Partial Monosomy 9p have a normal birth weight and length. However, the disorder is typically characterized by variable delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor delay) and moderate or mild intellectual disability. Reports indicate that affected individuals tend to have an affectionate, friendly, and sociable personality.As noted above, Chromosome 9, Partial Monosomy 9p is also associated with characteristic abnormalities of the skull and facial (craniofacial) region. In many affected infants, there is premature fusion of the fibrous joint (i.e., metopic suture) between bones forming the forehead (craniosynostosis), resulting in an abnormally narrow, pointed, “triangular-” or “keel-shaped” forehead (trigonocephaly). In addition, the back of the head (occiput) may appear unusually flat. Additional characteristic craniofacial malformations may include widely spaced eyes (ocular hypertelorism); upwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); and/or highly arched eyebrows. In addition, the eyes may appear unusually prominent. Many affected infants also have unusually flat midfacial regions (midfacial hypoplasia), including a short nose, flattened nasal bridge, and upturned nostrils (anteverted nares); an abnormally long vertical groove in the center of the upper lip (philtrum); and/or a small jaw (micrognathia) and small mouth with protruding lips. Additional craniofacial abnormalities may also be present, such as a highly arched roof of the mouth (palate); low-set, malformed ears; and/or a short, broad, somewhat webbed neck with a low hairline.Individuals with Chromosome 9, Partial Monosomy 9p may also have various malformations of the hands and feet. Such abnormalities may include unusually long fingers or toes (digits) due to increased length of the middle bones (phalanges) of the digits; abnormal skin ridge patterns of the fingertips; a single crease across the palms of the hands; and/or abnormally short, square (i.e., hyperconvex) fingernails and toenails.According to reports in the medical literature, approximately one- to two-thirds of affected infants may also have structural malformations of the heart at birth (congenital heart defects). Such cardiac defects may include an abnormal opening in the partition (septum) that separates the two lower chambers (ventricles) of the heart (ventricular septal defects); abnormal narrowing (stenosis) of the opening between the pulmonary artery and the right ventricle (pulmonary stenosis); and/or patent ductus arteriosus (PDA). In individuals with PDA, the channel that is present between the pulmonary artery and the aorta during fetal development fails to close after birth. (The pulmonary artery carries oxygen-depleted blood from the right ventricle to the lungs, where the exchange of oxygen and carbon dioxide occurs. The aorta, the major artery of the body, arises from the left ventricle and supplies oxygen-rich blood to most arteries.) In those with cardiac defects, associated symptoms and findings may vary, depending upon the size, nature, and combination of heart malformations present and other factors. Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and/or other abnormalities. In severe cases, congenital heart disease may lead to potentially life-threatening complications.In some individuals with the disorder, Chromosome 9, Partial Monosomy 9p may also be characterized by genital defects. In affected males, such abnormalities may include a small penis (micropenis); undescended testes (cryptorchidism); and/or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. In females, the two long folds of skin on either side of the vaginal opening (labia majora) may be underdeveloped (hypoplastic), while the two small folds of skin between the labia majora and the vaginal opening (labia minora) may be larger than normal (hyperplastic). In addition, in some affected infants, there may be protrusion (herniation) of a portion of the intestine into the canal that passes through lower muscular layers of the abdominal wall (inguinal hernia). (In males, the inguinal canal is the tubular passageway through which the testes normally descend from the abdomen into the scrotum before birth.) Some with the disorder may also have an umbilical hernia or an omphalocele. An umbilical hernia is a skin-covered protrusion of intestine and the fold of fatty membrane in front of the intestine (omentum) through a defect in the abdominal wall at the navel (i.e., the umbilicus, where the umbilical cord joined the fetal abdomen). An omphalocele is a herniation of varying amounts of abdominal contents (e.g., intestines and, in severe cases, other abdominal organs) around the umbilicus, with the bulging area covered by a membrane-like sac consisting of peritoneum without overlying skin. (The peritoneum is the membrane lining the abdominal wall and covering internal abdominal organs.) In infants with an omphalocele, potentially life-threatening complications may result due to rupture of the sac, damage to tissues due to drying, and/or infection.Additional physical abnormalities have also been reported in association with Partial Monosomy 9p. Such abnormalities have included sudden episodes of uncontrolled electrical activity in the brain (seizures), widely spaced nipples, abnormal curvature of the spine, and/or, more rarely, incomplete closure (clefting) of the palate (cleft palate), bony or membranous blockage of the passageway between one or both sides of the nose and the throat (choanal atresia), and/or other features. | Symptoms of Chromosome 9, Partial Monosomy 9p. Most infants with Chromosome 9, Partial Monosomy 9p have a normal birth weight and length. However, the disorder is typically characterized by variable delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor delay) and moderate or mild intellectual disability. Reports indicate that affected individuals tend to have an affectionate, friendly, and sociable personality.As noted above, Chromosome 9, Partial Monosomy 9p is also associated with characteristic abnormalities of the skull and facial (craniofacial) region. In many affected infants, there is premature fusion of the fibrous joint (i.e., metopic suture) between bones forming the forehead (craniosynostosis), resulting in an abnormally narrow, pointed, “triangular-” or “keel-shaped” forehead (trigonocephaly). In addition, the back of the head (occiput) may appear unusually flat. Additional characteristic craniofacial malformations may include widely spaced eyes (ocular hypertelorism); upwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); and/or highly arched eyebrows. In addition, the eyes may appear unusually prominent. Many affected infants also have unusually flat midfacial regions (midfacial hypoplasia), including a short nose, flattened nasal bridge, and upturned nostrils (anteverted nares); an abnormally long vertical groove in the center of the upper lip (philtrum); and/or a small jaw (micrognathia) and small mouth with protruding lips. Additional craniofacial abnormalities may also be present, such as a highly arched roof of the mouth (palate); low-set, malformed ears; and/or a short, broad, somewhat webbed neck with a low hairline.Individuals with Chromosome 9, Partial Monosomy 9p may also have various malformations of the hands and feet. Such abnormalities may include unusually long fingers or toes (digits) due to increased length of the middle bones (phalanges) of the digits; abnormal skin ridge patterns of the fingertips; a single crease across the palms of the hands; and/or abnormally short, square (i.e., hyperconvex) fingernails and toenails.According to reports in the medical literature, approximately one- to two-thirds of affected infants may also have structural malformations of the heart at birth (congenital heart defects). Such cardiac defects may include an abnormal opening in the partition (septum) that separates the two lower chambers (ventricles) of the heart (ventricular septal defects); abnormal narrowing (stenosis) of the opening between the pulmonary artery and the right ventricle (pulmonary stenosis); and/or patent ductus arteriosus (PDA). In individuals with PDA, the channel that is present between the pulmonary artery and the aorta during fetal development fails to close after birth. (The pulmonary artery carries oxygen-depleted blood from the right ventricle to the lungs, where the exchange of oxygen and carbon dioxide occurs. The aorta, the major artery of the body, arises from the left ventricle and supplies oxygen-rich blood to most arteries.) In those with cardiac defects, associated symptoms and findings may vary, depending upon the size, nature, and combination of heart malformations present and other factors. Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and/or other abnormalities. In severe cases, congenital heart disease may lead to potentially life-threatening complications.In some individuals with the disorder, Chromosome 9, Partial Monosomy 9p may also be characterized by genital defects. In affected males, such abnormalities may include a small penis (micropenis); undescended testes (cryptorchidism); and/or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. In females, the two long folds of skin on either side of the vaginal opening (labia majora) may be underdeveloped (hypoplastic), while the two small folds of skin between the labia majora and the vaginal opening (labia minora) may be larger than normal (hyperplastic). In addition, in some affected infants, there may be protrusion (herniation) of a portion of the intestine into the canal that passes through lower muscular layers of the abdominal wall (inguinal hernia). (In males, the inguinal canal is the tubular passageway through which the testes normally descend from the abdomen into the scrotum before birth.) Some with the disorder may also have an umbilical hernia or an omphalocele. An umbilical hernia is a skin-covered protrusion of intestine and the fold of fatty membrane in front of the intestine (omentum) through a defect in the abdominal wall at the navel (i.e., the umbilicus, where the umbilical cord joined the fetal abdomen). An omphalocele is a herniation of varying amounts of abdominal contents (e.g., intestines and, in severe cases, other abdominal organs) around the umbilicus, with the bulging area covered by a membrane-like sac consisting of peritoneum without overlying skin. (The peritoneum is the membrane lining the abdominal wall and covering internal abdominal organs.) In infants with an omphalocele, potentially life-threatening complications may result due to rupture of the sac, damage to tissues due to drying, and/or infection.Additional physical abnormalities have also been reported in association with Partial Monosomy 9p. Such abnormalities have included sudden episodes of uncontrolled electrical activity in the brain (seizures), widely spaced nipples, abnormal curvature of the spine, and/or, more rarely, incomplete closure (clefting) of the palate (cleft palate), bony or membranous blockage of the passageway between one or both sides of the nose and the throat (choanal atresia), and/or other features. | 265 | Chromosome 9, Partial Monosomy 9p |
nord_265_2 | Causes of Chromosome 9, Partial Monosomy 9p | In individuals with Chromosome 9, Partial Monosomy 9p, there is deletion (monosomy) of part of the end (distal) region of the short arm (p) of chromosome 9. (“Distal” indicates away or farthest from a particular point of reference, meaning the chromosome's centromere [described below].) Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p”, a long arm identified by the letter “q”, and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, “9p22” refers to band 22 of the short arm of chromosome 9.The range and severity of associated symptoms may depend on the specific length and location of the monosomic portion of 9p. Evidence suggests that most individuals with characteristic features of this chromosomal syndrome have deletions beginning within band 9p22 (breakpoint) that may extend to the end (or “terminal”) of chromosome 9p. (The distal region of 9p is sometimes referred to as “9p2” and includes bands 9p21 through 9p24, the latter of which is the terminal band of 9p.) In most cases, Chromosome 9, Partial Monosomy 9p appears to be caused by spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. In other instances, Partial Monosomy 9p may result from a “balanced translocation” in one of the parents. Translocations occur when portions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring.Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement involving chromosome 9 in one of the parents. | Causes of Chromosome 9, Partial Monosomy 9p. In individuals with Chromosome 9, Partial Monosomy 9p, there is deletion (monosomy) of part of the end (distal) region of the short arm (p) of chromosome 9. (“Distal” indicates away or farthest from a particular point of reference, meaning the chromosome's centromere [described below].) Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p”, a long arm identified by the letter “q”, and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, “9p22” refers to band 22 of the short arm of chromosome 9.The range and severity of associated symptoms may depend on the specific length and location of the monosomic portion of 9p. Evidence suggests that most individuals with characteristic features of this chromosomal syndrome have deletions beginning within band 9p22 (breakpoint) that may extend to the end (or “terminal”) of chromosome 9p. (The distal region of 9p is sometimes referred to as “9p2” and includes bands 9p21 through 9p24, the latter of which is the terminal band of 9p.) In most cases, Chromosome 9, Partial Monosomy 9p appears to be caused by spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. In other instances, Partial Monosomy 9p may result from a “balanced translocation” in one of the parents. Translocations occur when portions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. If a chromosomal rearrangement is balanced, meaning that it consists of an altered but balanced set of chromosomes, it is usually harmless to the carrier. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carrier's offspring.Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement involving chromosome 9 in one of the parents. | 265 | Chromosome 9, Partial Monosomy 9p |
nord_265_3 | Affects of Chromosome 9, Partial Monosomy 9p | In observed cases, Chromosome 9, Partial Monosomy 9p has appeared to affect females more frequently than males. Since the disorder was originally described, more than 100 cases have been reported in the medical literature. | Affects of Chromosome 9, Partial Monosomy 9p. In observed cases, Chromosome 9, Partial Monosomy 9p has appeared to affect females more frequently than males. Since the disorder was originally described, more than 100 cases have been reported in the medical literature. | 265 | Chromosome 9, Partial Monosomy 9p |
nord_265_4 | Related disorders of Chromosome 9, Partial Monosomy 9p | Symptoms of the following disorders may be similar to those of Chromosome 9, Partial Monosomy 9p. Comparisons may be useful for a differential diagnosis:Chromosome 9 Ring is a rare chromosomal disorder in which there is loss (deletion) of genetic material from the end (distal) regions of the short arm and long arm of the 9th chromosome and joining of the ends to form a ring. Associated symptoms and findings may vary, depending upon the amount and location of lost chromosomal material and other factors. Some affected individuals may have variable craniofacial malformations; however, in others with the chromosomal abnormality, such features may not be apparent. Craniofacial defects associated with Chromosome 9 Ring may include an abnormally small head (microcephaly); a “triangular-” or “keel-shaped” forehead (trigonocephaly); abnormally slanting eyelid folds (palpebral fissures); slight protrusion of the eyes (exophthalmos); a small jaw (micrognathia); and/or a short neck. In some cases, additional physical features may include growth delay after birth, congenital heart defects, genital abnormalities, and/or other findings. In addition, many affected individuals have moderate to severe intellectual disability; however, in some instances, intelligence may be in the low normal range. Chromosome 9 Ring usually appears to result from spontaneous (de novo) errors very early during embryonic development. (For further information on this disorder, choose “Chromosome 9 Ring” as your search term in the Rare Disease Database.)Down syndrome is a chromosomal disorder in which all or a portion of chromosome 21 appears three times (trisomy) rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the chromosomal abnormality (mosaicism). Associated symptoms may vary greatly, depending on the length and location of the duplicated (trisomic) portion of chromosome 21 as well as the percentage of cells containing the abnormality. However, many affected infants may have low muscle tone (hypotonia), a poor startle (Moro) reflex, excessive flexibility of the joints, a single crease across the palms, and distinctive malformations of the craniofacial region. Craniofacial abnormalities may include a short, small head (microbrachycephaly); upwardly slanting eyelid folds (palpebral fissures); a small nose with a depressed nasal bridge; a relatively flat facial profile; malformed (dysplastic) ears; and excessive skin on the back of the neck. Down syndrome may also be characterized by short stature, mild to severe intellectual disability, hearing impairment, structural malformations of the heart, and/or various additional physical abnormalities. Additional chromosomal disorders may be characterized by symptoms and findings similar to those associated with Chromosome 9, Partial Monosomy 9p. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | Related disorders of Chromosome 9, Partial Monosomy 9p. Symptoms of the following disorders may be similar to those of Chromosome 9, Partial Monosomy 9p. Comparisons may be useful for a differential diagnosis:Chromosome 9 Ring is a rare chromosomal disorder in which there is loss (deletion) of genetic material from the end (distal) regions of the short arm and long arm of the 9th chromosome and joining of the ends to form a ring. Associated symptoms and findings may vary, depending upon the amount and location of lost chromosomal material and other factors. Some affected individuals may have variable craniofacial malformations; however, in others with the chromosomal abnormality, such features may not be apparent. Craniofacial defects associated with Chromosome 9 Ring may include an abnormally small head (microcephaly); a “triangular-” or “keel-shaped” forehead (trigonocephaly); abnormally slanting eyelid folds (palpebral fissures); slight protrusion of the eyes (exophthalmos); a small jaw (micrognathia); and/or a short neck. In some cases, additional physical features may include growth delay after birth, congenital heart defects, genital abnormalities, and/or other findings. In addition, many affected individuals have moderate to severe intellectual disability; however, in some instances, intelligence may be in the low normal range. Chromosome 9 Ring usually appears to result from spontaneous (de novo) errors very early during embryonic development. (For further information on this disorder, choose “Chromosome 9 Ring” as your search term in the Rare Disease Database.)Down syndrome is a chromosomal disorder in which all or a portion of chromosome 21 appears three times (trisomy) rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the chromosomal abnormality (mosaicism). Associated symptoms may vary greatly, depending on the length and location of the duplicated (trisomic) portion of chromosome 21 as well as the percentage of cells containing the abnormality. However, many affected infants may have low muscle tone (hypotonia), a poor startle (Moro) reflex, excessive flexibility of the joints, a single crease across the palms, and distinctive malformations of the craniofacial region. Craniofacial abnormalities may include a short, small head (microbrachycephaly); upwardly slanting eyelid folds (palpebral fissures); a small nose with a depressed nasal bridge; a relatively flat facial profile; malformed (dysplastic) ears; and excessive skin on the back of the neck. Down syndrome may also be characterized by short stature, mild to severe intellectual disability, hearing impairment, structural malformations of the heart, and/or various additional physical abnormalities. Additional chromosomal disorders may be characterized by symptoms and findings similar to those associated with Chromosome 9, Partial Monosomy 9p. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | 265 | Chromosome 9, Partial Monosomy 9p |
nord_265_5 | Diagnosis of Chromosome 9, Partial Monosomy 9p | In some instances, Chromosome 9, Partial Monosomy 9p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain characteristic findings that suggest a chromosomal disorder or other developmental abnormalities. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal studies performed on such fluid or tissue samples may reveal the presence of Partial Monosomy 9p.In most cases, the disorder is diagnosed or confirmed after birth (postnatally) based upon a thorough clinical evaluation, detection of characteristic physical findings, and chromosomal analysis. Various specialized tests may also be performed to help detect and/or characterize certain abnormalities that may be associated with the disorder. For example, a thorough cardiac evaluation may be advised to detect any heart abnormalities that may be present. Such evaluations may include a thorough clinical examination, evaluation of heart and lung sounds through use of a stethoscope, and specialized tests that enable physicians to evaluate the structure and function of the heart (e.g., x-ray studies, electrocardiography [EKG]), echocardiography). | Diagnosis of Chromosome 9, Partial Monosomy 9p. In some instances, Chromosome 9, Partial Monosomy 9p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain characteristic findings that suggest a chromosomal disorder or other developmental abnormalities. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal studies performed on such fluid or tissue samples may reveal the presence of Partial Monosomy 9p.In most cases, the disorder is diagnosed or confirmed after birth (postnatally) based upon a thorough clinical evaluation, detection of characteristic physical findings, and chromosomal analysis. Various specialized tests may also be performed to help detect and/or characterize certain abnormalities that may be associated with the disorder. For example, a thorough cardiac evaluation may be advised to detect any heart abnormalities that may be present. Such evaluations may include a thorough clinical examination, evaluation of heart and lung sounds through use of a stethoscope, and specialized tests that enable physicians to evaluate the structure and function of the heart (e.g., x-ray studies, electrocardiography [EKG]), echocardiography). | 265 | Chromosome 9, Partial Monosomy 9p |
nord_265_6 | Therapies of Chromosome 9, Partial Monosomy 9p | TreatmentThe treatment of Chromosome 9, Partial Monosomy 9p is directed towards the specific symptoms that are apparent in each individual. Such disease management may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; heart specialists (cardiologists); physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues (orthopedists); neurologists; and/or other health care professionals.For affected individuals with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be required. In addition, for infants with an omphalocele, the abnormality is typically surgically repaired soon after birth. In some cases, physicians may also recommend surgical repair or correction of certain craniofacial malformations (e.g., craniosynostosis), genital defects, hernias, and/or other malformations associated with the disorder. The specific surgical procedures performed will depend upon the nature and severity of the anatomical abnormalities, their associated symptoms, and other factors.As noted above, rare cases have also been reported in which infants are affected by blockage of the passageway between the nose and throat (choanal atresia). Because choanal atresia may result in associated breathing, feeding, and swallowing problems, initial treatment for such infants may also require prompt establishment of an oral airway or creation of an opening through the neck into the windpipe into which a tube is inserted (tracheostomy). In addition, supportive measures to help improve feeding may include use of modified artificial nipples or tube feeding (gavage feeding). Surgical correction of choanal atresia may be recommended during the newborn (neonatal) period or later during childhood, based upon the severity of the condition, the presence of other medical problems, and/or other factors.For individuals affected by seizures, treatment may include the administration of anticonvulsant medications to help prevent, reduce, or control seizure episodes.Early intervention services may also be important in ensuring that affected children reach their potential. Special services that may be beneficial include special remedial education, speech therapy, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive. | Therapies of Chromosome 9, Partial Monosomy 9p. TreatmentThe treatment of Chromosome 9, Partial Monosomy 9p is directed towards the specific symptoms that are apparent in each individual. Such disease management may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; heart specialists (cardiologists); physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues (orthopedists); neurologists; and/or other health care professionals.For affected individuals with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be required. In addition, for infants with an omphalocele, the abnormality is typically surgically repaired soon after birth. In some cases, physicians may also recommend surgical repair or correction of certain craniofacial malformations (e.g., craniosynostosis), genital defects, hernias, and/or other malformations associated with the disorder. The specific surgical procedures performed will depend upon the nature and severity of the anatomical abnormalities, their associated symptoms, and other factors.As noted above, rare cases have also been reported in which infants are affected by blockage of the passageway between the nose and throat (choanal atresia). Because choanal atresia may result in associated breathing, feeding, and swallowing problems, initial treatment for such infants may also require prompt establishment of an oral airway or creation of an opening through the neck into the windpipe into which a tube is inserted (tracheostomy). In addition, supportive measures to help improve feeding may include use of modified artificial nipples or tube feeding (gavage feeding). Surgical correction of choanal atresia may be recommended during the newborn (neonatal) period or later during childhood, based upon the severity of the condition, the presence of other medical problems, and/or other factors.For individuals affected by seizures, treatment may include the administration of anticonvulsant medications to help prevent, reduce, or control seizure episodes.Early intervention services may also be important in ensuring that affected children reach their potential. Special services that may be beneficial include special remedial education, speech therapy, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive. | 265 | Chromosome 9, Partial Monosomy 9p |
nord_266_0 | Overview of Chromosome 9, Tetrasomy 9p | Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of the ninth chromosome (9p) appears four times (tetrasomy) rather than twice in all or some cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which have a short arm (“9p”) and a long arm (“9q”). However, in individuals with Chromosome 9, Tetrasomy 9p, four short arms (9ps) are present in cells rather than the normal two.The symptoms of Chromosome 9, Tetrasomy 9p may vary greatly in range and severity from case to case. Associated abnormalities may include mild growth retardation, moderate to severe delay in the attainment of skills requiring the coordination of muscular and mental activities (psychomotor retardation), and/or moderate to severe mental retardation. In addition, the disorder may be characterized by various physical abnormalities, such as malformations of the skull and facial (craniofacial) region, abnormalities of the hands and fingers, skeletal malformations, and/or heart (cardiac) defects. Chromosome 9, Tetrasomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). | Overview of Chromosome 9, Tetrasomy 9p. Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of the ninth chromosome (9p) appears four times (tetrasomy) rather than twice in all or some cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which have a short arm (“9p”) and a long arm (“9q”). However, in individuals with Chromosome 9, Tetrasomy 9p, four short arms (9ps) are present in cells rather than the normal two.The symptoms of Chromosome 9, Tetrasomy 9p may vary greatly in range and severity from case to case. Associated abnormalities may include mild growth retardation, moderate to severe delay in the attainment of skills requiring the coordination of muscular and mental activities (psychomotor retardation), and/or moderate to severe mental retardation. In addition, the disorder may be characterized by various physical abnormalities, such as malformations of the skull and facial (craniofacial) region, abnormalities of the hands and fingers, skeletal malformations, and/or heart (cardiac) defects. Chromosome 9, Tetrasomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). | 266 | Chromosome 9, Tetrasomy 9p |
nord_266_1 | Symptoms of Chromosome 9, Tetrasomy 9p | Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of chromosome 9 (9p) appears four times (tetrasomy) rather than twice in cells of the body. In the majority of cases, this chromosomal abnormality (Tetrasomy 9p) is present in all cells of the body; however, in some cases, only some cells exhibit Tetrasomy 9p (mosaicism) while others cells have a normal chromosomal make-up. Symptoms vary in affected individuals, depending upon whether such a mosaic pattern is present and, if so, what percentage of cells contain the Tetrasomy 9p abnormality. People with Chromosome 9, Tetrasomy 9p may exhibit a variety of physical and developmental abnormalities. Physical characteristics associated with the disorder may include abnormalities of the head and facial (craniofacial) area, such as an unusually small head (microcephaly), abnormally wide spaces between fibrous joints (sutures) and bones in the skull (fontanelles), widely spaced eyes (ocular hypertelorism), and/or an abnormally rounded (bulbous) or beaked nose. Other facial abnormalities may include vertical skin folds on either side of the nose that may cover the eyes' inner corners (epicanthal folds) and/or unusually small, receding jaw bones (microretrognathia). Affected individuals may also have a short neck; low-set, misshapen (dysplastic) ears; and/or various malformations of the hands and fingers, such as improperly developed (dysplastic) fingernails; fifth fingers that are abnormally bent (clinodactyly) and short (brachymesophalangy); and a single, deep crease across the palms of the hands (simian crease). Most people with Chromosome 9, Tetrasomy 9p also exhibit improper skeletal development (dysplasia). As a result, their symptoms may include abnormally reduced bone mass (osteopenia); incomplete closure of bones in the spinal column surrounding the spinal cord (spina bifida occulta); and/or a sideways and front-to-back curvature of the spine (kyphoscoliosis). Other features may include abnormally prominent ribs (angulated costal arches) and/or delayed development (ossification) of the pelvic bone, the hip bones, and/or the shaft of the thigh bones (femoral heads). (For more information on spina bifida occulta, choose “Spina Bifida” as your search term in the Rare Disease Database.) In some cases, people with Chromosome 9, Tetrasomy 9p may have additional physical abnormalities, including heart (cardiac) malformations and/or abnormalities of the eyes, such as sinking in of the eyeballs (enophthalmos) and/or crossing of the eyes (strabismus). Cerebral spaces in the brain (ventricles) may be abnormally widened (dilated), inhibiting the normal flow of cerebrospinal fluid; as a result, the fluid may accumulate in the skull and put pressure on brain tissue (hydrocephalus). In rare cases, affected individuals may display incomplete closure of the lip and the roof of the mouth (cleft lip and palate); kidney (renal) abnormalities; and/or failure of one or both testes to descend into the scrotum (cryptorchidism) in affected males. (For more information on these disorders, choose “Hydrocephalus” and “Cleft Palate” as your search terms in the Rare Disease Database.) In almost all cases, individuals with Chromosome 9, Tetrasomy 9p also exhibit developmental abnormalities, such as low birthweight, mild growth retardation, and/or moderate to severe delay in the attainment of skills requiring coordination of muscular and mental activity (psychomotor retardation). Moderate to severe mental retardation may also be present. | Symptoms of Chromosome 9, Tetrasomy 9p. Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of chromosome 9 (9p) appears four times (tetrasomy) rather than twice in cells of the body. In the majority of cases, this chromosomal abnormality (Tetrasomy 9p) is present in all cells of the body; however, in some cases, only some cells exhibit Tetrasomy 9p (mosaicism) while others cells have a normal chromosomal make-up. Symptoms vary in affected individuals, depending upon whether such a mosaic pattern is present and, if so, what percentage of cells contain the Tetrasomy 9p abnormality. People with Chromosome 9, Tetrasomy 9p may exhibit a variety of physical and developmental abnormalities. Physical characteristics associated with the disorder may include abnormalities of the head and facial (craniofacial) area, such as an unusually small head (microcephaly), abnormally wide spaces between fibrous joints (sutures) and bones in the skull (fontanelles), widely spaced eyes (ocular hypertelorism), and/or an abnormally rounded (bulbous) or beaked nose. Other facial abnormalities may include vertical skin folds on either side of the nose that may cover the eyes' inner corners (epicanthal folds) and/or unusually small, receding jaw bones (microretrognathia). Affected individuals may also have a short neck; low-set, misshapen (dysplastic) ears; and/or various malformations of the hands and fingers, such as improperly developed (dysplastic) fingernails; fifth fingers that are abnormally bent (clinodactyly) and short (brachymesophalangy); and a single, deep crease across the palms of the hands (simian crease). Most people with Chromosome 9, Tetrasomy 9p also exhibit improper skeletal development (dysplasia). As a result, their symptoms may include abnormally reduced bone mass (osteopenia); incomplete closure of bones in the spinal column surrounding the spinal cord (spina bifida occulta); and/or a sideways and front-to-back curvature of the spine (kyphoscoliosis). Other features may include abnormally prominent ribs (angulated costal arches) and/or delayed development (ossification) of the pelvic bone, the hip bones, and/or the shaft of the thigh bones (femoral heads). (For more information on spina bifida occulta, choose “Spina Bifida” as your search term in the Rare Disease Database.) In some cases, people with Chromosome 9, Tetrasomy 9p may have additional physical abnormalities, including heart (cardiac) malformations and/or abnormalities of the eyes, such as sinking in of the eyeballs (enophthalmos) and/or crossing of the eyes (strabismus). Cerebral spaces in the brain (ventricles) may be abnormally widened (dilated), inhibiting the normal flow of cerebrospinal fluid; as a result, the fluid may accumulate in the skull and put pressure on brain tissue (hydrocephalus). In rare cases, affected individuals may display incomplete closure of the lip and the roof of the mouth (cleft lip and palate); kidney (renal) abnormalities; and/or failure of one or both testes to descend into the scrotum (cryptorchidism) in affected males. (For more information on these disorders, choose “Hydrocephalus” and “Cleft Palate” as your search terms in the Rare Disease Database.) In almost all cases, individuals with Chromosome 9, Tetrasomy 9p also exhibit developmental abnormalities, such as low birthweight, mild growth retardation, and/or moderate to severe delay in the attainment of skills requiring coordination of muscular and mental activity (psychomotor retardation). Moderate to severe mental retardation may also be present. | 266 | Chromosome 9, Tetrasomy 9p |
nord_266_2 | Causes of Chromosome 9, Tetrasomy 9p | Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of chromosome 9 (9p) appears four times (tetrasomy) rather than twice in some or all of the cells of the body. When only some cells are affected, this is termed “mosaicism.” Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q”.Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which consist of a short arm (9p), a long arm (9q), and a narrowed region at which the two arms are joined (centromere). However, reports indicate that people with Chromosome 9, Tetrasomy 9p typically have an extra chromosome that consists of two short arms (9ps). This abnormal chromosome may have one (isochromosome) or two centromeres (isodicentric). Therefore, in affected individuals, a total of four short arms (9ps) are present in cells of the body rather than the normal two, resulting in the symptoms that characterize this disorder. In the majority of cases, the Tetrasomy 9p abnormality is present in all cells of the body; however, in some cases, only some cells may exhibit Tetrasomy 9p (mosaicism) while other cells contain a normal chromosomal make- up. Symptoms vary in affected individuals, depending upon whether such a mosaic pattern is present and, if so, what percentage of cells contain the Tetrasomy 9p abnormality. Chromosome 9, Tetrasomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). In such cases, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. | Causes of Chromosome 9, Tetrasomy 9p. Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of chromosome 9 (9p) appears four times (tetrasomy) rather than twice in some or all of the cells of the body. When only some cells are affected, this is termed “mosaicism.” Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q”.Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which consist of a short arm (9p), a long arm (9q), and a narrowed region at which the two arms are joined (centromere). However, reports indicate that people with Chromosome 9, Tetrasomy 9p typically have an extra chromosome that consists of two short arms (9ps). This abnormal chromosome may have one (isochromosome) or two centromeres (isodicentric). Therefore, in affected individuals, a total of four short arms (9ps) are present in cells of the body rather than the normal two, resulting in the symptoms that characterize this disorder. In the majority of cases, the Tetrasomy 9p abnormality is present in all cells of the body; however, in some cases, only some cells may exhibit Tetrasomy 9p (mosaicism) while other cells contain a normal chromosomal make- up. Symptoms vary in affected individuals, depending upon whether such a mosaic pattern is present and, if so, what percentage of cells contain the Tetrasomy 9p abnormality. Chromosome 9, Tetrasomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). In such cases, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. | 266 | Chromosome 9, Tetrasomy 9p |
nord_266_3 | Affects of Chromosome 9, Tetrasomy 9p | Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder that appears to affect males slightly more often than females. Approximately 30 cases have been reported in the medical literature. | Affects of Chromosome 9, Tetrasomy 9p. Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder that appears to affect males slightly more often than females. Approximately 30 cases have been reported in the medical literature. | 266 | Chromosome 9, Tetrasomy 9p |
nord_266_4 | Related disorders of Chromosome 9, Tetrasomy 9p | Symptoms of the following disorders may be similar to those of Chromosome 9, Tetrasomy 9p. Comparisons may be useful for a differential diagnosis: Chromosome 9, Trisomy 9p is a rare chromosomal disorder in which a portion of chromosome 9 appears three times (trisomy) rather than twice in cells of the body. The trisomy may involve a portion of the short arm (9p), the entire short arm, or the short arm and a segment of the long arm (9q). Many of the symptoms associated with Chromosome 9, Trisomy 9p are similar to those occurring in individuals with Chromosome 9, Tetrasomy 9p. Associated symptoms and findings may include an abnormally small head (microcephaly), a bulbous nose, misshapen ears, crossed and/or widely spaced eyes (strabismus and/or ocular hypertelorism), a large mouth with downturned corners, and/or other craniofacial abnormalities. Additional associated features may include growth retardation, delayed bone development, hand and finger malformations, heart (cardiac) defects, and mental retardation. In approximately half of known cases, Trisomy 9p is due to a balanced chromosomal rearrangement in one of the parents; in other cases, the disorder appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).Additional chromosomal disorders may have features similar to those associated with Chromosome 9, Tetrasomy 9p. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | Related disorders of Chromosome 9, Tetrasomy 9p. Symptoms of the following disorders may be similar to those of Chromosome 9, Tetrasomy 9p. Comparisons may be useful for a differential diagnosis: Chromosome 9, Trisomy 9p is a rare chromosomal disorder in which a portion of chromosome 9 appears three times (trisomy) rather than twice in cells of the body. The trisomy may involve a portion of the short arm (9p), the entire short arm, or the short arm and a segment of the long arm (9q). Many of the symptoms associated with Chromosome 9, Trisomy 9p are similar to those occurring in individuals with Chromosome 9, Tetrasomy 9p. Associated symptoms and findings may include an abnormally small head (microcephaly), a bulbous nose, misshapen ears, crossed and/or widely spaced eyes (strabismus and/or ocular hypertelorism), a large mouth with downturned corners, and/or other craniofacial abnormalities. Additional associated features may include growth retardation, delayed bone development, hand and finger malformations, heart (cardiac) defects, and mental retardation. In approximately half of known cases, Trisomy 9p is due to a balanced chromosomal rearrangement in one of the parents; in other cases, the disorder appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).Additional chromosomal disorders may have features similar to those associated with Chromosome 9, Tetrasomy 9p. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use “chromosome” as your search term in the Rare Disease Database.) | 266 | Chromosome 9, Tetrasomy 9p |
nord_266_5 | Diagnosis of Chromosome 9, Tetrasomy 9p | In some cases, the diagnosis of Chromosome 9, Tetrasomy 9p may be suggeste. before birth (prenatally) by specialized tests such as ultrasound. amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal studies performed on such fluid or tissue samples may reveal the presence of Tetrasomy 9p. In some cases. however, such as when Tetrasomy 9p is not present in all of the fetus' cell. (mosaicism), chromosomal studies of fluid or tissue samples may not revea. the tetrasomy.The diagnosis of Chromosome 9, Tetrasomy 9p may be confirmed after birt. (postnatally) by a thorough clinical evaluation; detection of characteristic physica. findings; chromosomal studies; and other specialized tests. For example, in some cases, analysis may be performed to detect elevated activity of the galactose-1-phosphate uridyltransferase (GALT) enzyme, which is known to be regulated by a gene located on the short arm of chromosome 9 (9p13). | Diagnosis of Chromosome 9, Tetrasomy 9p. In some cases, the diagnosis of Chromosome 9, Tetrasomy 9p may be suggeste. before birth (prenatally) by specialized tests such as ultrasound. amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal studies performed on such fluid or tissue samples may reveal the presence of Tetrasomy 9p. In some cases. however, such as when Tetrasomy 9p is not present in all of the fetus' cell. (mosaicism), chromosomal studies of fluid or tissue samples may not revea. the tetrasomy.The diagnosis of Chromosome 9, Tetrasomy 9p may be confirmed after birt. (postnatally) by a thorough clinical evaluation; detection of characteristic physica. findings; chromosomal studies; and other specialized tests. For example, in some cases, analysis may be performed to detect elevated activity of the galactose-1-phosphate uridyltransferase (GALT) enzyme, which is known to be regulated by a gene located on the short arm of chromosome 9 (9p13). | 266 | Chromosome 9, Tetrasomy 9p |
nord_266_6 | Therapies of Chromosome 9, Tetrasomy 9p | TreatmentThe treatment of Chromosome 9, Tetrasomy 9p is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; physicians who specialize in disorders of the skeleton, muscles, joints, and related tissues (orthopedists); heart specialists (cardiologists); eye specialists; physical therapists; and/or other health care professionals.For some affected individuals, physicians may recommend surgical correction or repair of certain craniofacial, skeletal, and/or other abnormalities associated with the disorder. In addition, for those with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be necessary. The specific surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors.Early intervention may be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive. | Therapies of Chromosome 9, Tetrasomy 9p. TreatmentThe treatment of Chromosome 9, Tetrasomy 9p is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; physicians who specialize in disorders of the skeleton, muscles, joints, and related tissues (orthopedists); heart specialists (cardiologists); eye specialists; physical therapists; and/or other health care professionals.For some affected individuals, physicians may recommend surgical correction or repair of certain craniofacial, skeletal, and/or other abnormalities associated with the disorder. In addition, for those with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be necessary. The specific surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors.Early intervention may be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive. | 266 | Chromosome 9, Tetrasomy 9p |
nord_267_0 | Overview of Chronic Eosinophilic Pneumonia | SummaryChronic eosinophilic pneumonia (CEP) is a rare disorder characterized by the massive accumulation of eosinophils in the lungs (pulmonary eosinophilia). Eosinophils are a type of white blood cell and are part of the immune system. They are usually produced in response to allergens, inflammation or infection (especially parasitic ones) and are particularly active in the respiratory tract. In CEP, eosinophils also accumulate in the bloodstream (peripheral eosinophilia). Common symptoms include shortness of breath (dyspnea), cough, fatigue, night sweats, low grade fevers, and unintended weight loss. The exact cause of CEP is unknown (idiopathic).IntroductionCEP was first described as a distinct entity in the medical literature by Carrington, et al. in 1969 when they described nine individuals with the disorder. It is classified as a form of eosinophilic lung disease, a large group of interstitial lung diseases. CEP is different from acute eosinophilic pneumonia (AEP), which is marked by rapid onset, the absence of asthma, a greater potential for acute respiratory failure and no relapse following treatment. For more information on AEP, choose “acute eosinophilic pneumonia” as your search term in the Rare Disease Database. | Overview of Chronic Eosinophilic Pneumonia. SummaryChronic eosinophilic pneumonia (CEP) is a rare disorder characterized by the massive accumulation of eosinophils in the lungs (pulmonary eosinophilia). Eosinophils are a type of white blood cell and are part of the immune system. They are usually produced in response to allergens, inflammation or infection (especially parasitic ones) and are particularly active in the respiratory tract. In CEP, eosinophils also accumulate in the bloodstream (peripheral eosinophilia). Common symptoms include shortness of breath (dyspnea), cough, fatigue, night sweats, low grade fevers, and unintended weight loss. The exact cause of CEP is unknown (idiopathic).IntroductionCEP was first described as a distinct entity in the medical literature by Carrington, et al. in 1969 when they described nine individuals with the disorder. It is classified as a form of eosinophilic lung disease, a large group of interstitial lung diseases. CEP is different from acute eosinophilic pneumonia (AEP), which is marked by rapid onset, the absence of asthma, a greater potential for acute respiratory failure and no relapse following treatment. For more information on AEP, choose “acute eosinophilic pneumonia” as your search term in the Rare Disease Database. | 267 | Chronic Eosinophilic Pneumonia |
nord_267_1 | Symptoms of Chronic Eosinophilic Pneumonia | Symptoms of CEP are general and nonspecific. The disorder is chronic and slowly progressive with symptoms usually developing insidiously over weeks or months. Breathing (respiratory) difficulties are always present in some form and can include progressive shortness of breath (dyspnea) and a nonproductive cough. Dyspnea can range from mild to severe. Wheezing occurs in approximately 50% of individuals. Some individuals may cough up a mixture of saliva and mucus (sputum).Additional symptoms associated with CEP include abnormal weakness or lack of energy (asthenia), night sweats, low grade fevers, and unintended (and sometimes marked) weight loss. Less frequently, a general feeling of poor health (malaise), chills, and chest pain may occur.Some individuals with CEP have pre-existing asthma or a history of allergies. The exact percentage of individuals with pre-existing asthma is unknown and estimates in the medical literature vary greatly, ranging anywhere from one-third to two-thirds of affected individuals. Airway obstruction associated with such conditions tends to worsen in individuals with CEP. In some cases, individuals with no history of asthma or allergies developed the conditions after developing CEP. Asthma associated with CEP is often severe. Approximately 75% of individuals with CEP experience asthma at some point during their lives.Additional non-respiratory symptoms in individuals with CEP are uncommon. However, joint pain, nerve damage and general skin or gastrointestinal symptoms have been reported in the medical literature.CEP tends to recur and many individuals will relapse at some point, especially when therapy is not maintained. A relapse can occur as much as 10 years or more after the initial episode. Some individuals eventually develop severe asthma. In some cases, individuals with CEP have developed a related disorder known as Churg-Strauss syndrome, suggesting that there may be an overlap between these two disorders. For more information on Churg-Strauss syndrome see the Related Disorders section below. | Symptoms of Chronic Eosinophilic Pneumonia. Symptoms of CEP are general and nonspecific. The disorder is chronic and slowly progressive with symptoms usually developing insidiously over weeks or months. Breathing (respiratory) difficulties are always present in some form and can include progressive shortness of breath (dyspnea) and a nonproductive cough. Dyspnea can range from mild to severe. Wheezing occurs in approximately 50% of individuals. Some individuals may cough up a mixture of saliva and mucus (sputum).Additional symptoms associated with CEP include abnormal weakness or lack of energy (asthenia), night sweats, low grade fevers, and unintended (and sometimes marked) weight loss. Less frequently, a general feeling of poor health (malaise), chills, and chest pain may occur.Some individuals with CEP have pre-existing asthma or a history of allergies. The exact percentage of individuals with pre-existing asthma is unknown and estimates in the medical literature vary greatly, ranging anywhere from one-third to two-thirds of affected individuals. Airway obstruction associated with such conditions tends to worsen in individuals with CEP. In some cases, individuals with no history of asthma or allergies developed the conditions after developing CEP. Asthma associated with CEP is often severe. Approximately 75% of individuals with CEP experience asthma at some point during their lives.Additional non-respiratory symptoms in individuals with CEP are uncommon. However, joint pain, nerve damage and general skin or gastrointestinal symptoms have been reported in the medical literature.CEP tends to recur and many individuals will relapse at some point, especially when therapy is not maintained. A relapse can occur as much as 10 years or more after the initial episode. Some individuals eventually develop severe asthma. In some cases, individuals with CEP have developed a related disorder known as Churg-Strauss syndrome, suggesting that there may be an overlap between these two disorders. For more information on Churg-Strauss syndrome see the Related Disorders section below. | 267 | Chronic Eosinophilic Pneumonia |
nord_267_2 | Causes of Chronic Eosinophilic Pneumonia | CEP is caused by the abnormal accumulation of eosinophils in lung tissue and the bloodstream. Normally, eosinophils only account for approximately 5% of circulating white blood cells in healthy individuals. Researchers believe that CEP may develop due to an unidentified, nonspecific triggering agent that causes the body to produce eosinophils. The exact reason for the overproduction and accumulation of eosinophils is unknown.Some researchers believe that cytokines (specialized proteins secreted from certain immune system cells that either stimulate or inhibit the function of other immune system cells) may play a role in the development of eosinophilic disorders. Interleukin-5 (IL-5) is a cytokine that is known to be a regulator of the development and function of eosinophils. It is possible that IL-5 might suppress the normal disintegration (apoptosis) of eosinophils resulting in their accumulation within the lungs and bloodstream. More research is necessary to determine the exact role, if any, of IL-5 in the development of eosinophilic disorders such as CEP.While CEP often occurs as an isolated finding, it sometimes occurs along with an additional disorder such as polyarteritis nodosa, rheumatoid arthritis, scleroderma, ulcerative colitis or forms of lymphoma or carcinoma. The exact relationship between these disorders and the development of CEP in such cases is unknown. | Causes of Chronic Eosinophilic Pneumonia. CEP is caused by the abnormal accumulation of eosinophils in lung tissue and the bloodstream. Normally, eosinophils only account for approximately 5% of circulating white blood cells in healthy individuals. Researchers believe that CEP may develop due to an unidentified, nonspecific triggering agent that causes the body to produce eosinophils. The exact reason for the overproduction and accumulation of eosinophils is unknown.Some researchers believe that cytokines (specialized proteins secreted from certain immune system cells that either stimulate or inhibit the function of other immune system cells) may play a role in the development of eosinophilic disorders. Interleukin-5 (IL-5) is a cytokine that is known to be a regulator of the development and function of eosinophils. It is possible that IL-5 might suppress the normal disintegration (apoptosis) of eosinophils resulting in their accumulation within the lungs and bloodstream. More research is necessary to determine the exact role, if any, of IL-5 in the development of eosinophilic disorders such as CEP.While CEP often occurs as an isolated finding, it sometimes occurs along with an additional disorder such as polyarteritis nodosa, rheumatoid arthritis, scleroderma, ulcerative colitis or forms of lymphoma or carcinoma. The exact relationship between these disorders and the development of CEP in such cases is unknown. | 267 | Chronic Eosinophilic Pneumonia |
nord_267_3 | Affects of Chronic Eosinophilic Pneumonia | CEP is a rare disorder, but the exact prevalence is unknown. The disorder can occur in individuals of any age, but is extremely rare in childhood. The peak incidence is during the fifth decade. CEP occurs twice as often in women than men. | Affects of Chronic Eosinophilic Pneumonia. CEP is a rare disorder, but the exact prevalence is unknown. The disorder can occur in individuals of any age, but is extremely rare in childhood. The peak incidence is during the fifth decade. CEP occurs twice as often in women than men. | 267 | Chronic Eosinophilic Pneumonia |
nord_267_4 | Related disorders of Chronic Eosinophilic Pneumonia | Symptoms of the following disorders can be similar to those of CEP. Comparisons may be useful for a differential diagnosis.Eosinophilic lung diseases are a broad group of disorders. These diseases are can be broken down into types without a known cause (idiopathic) and those with a known cause. Eosinophilic lung diseases without a known cause include CEP, AEP, Loffler’s syndrome (simple eosinophilic pneumonia), and idiopathic hypereosinophilic syndrome. Known causes of eosinophilic lung disease include allergic bronchopulmonary aspergillosis and related disorders and exposure to parasitic infections, drugs, or certain toxic substances. Systemic disorders that cause eosinophilic pneumonia include Churg-Strauss syndrome and Langerhans cell histiocytosis. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)Churg-Strauss syndrome is a rare disorder that may affect multiple organ systems, especially the lungs. The disorder is characterized by the abnormal clustering of certain white blood cells (hypereosinophilia) in the blood and tissues, inflammation of blood vessels (vasculitis), and the development of inflammatory nodular lesions called granulomas (granulomatosis). Most affected individuals have a history of allergy. In addition, in Churg-Strauss syndrome, asthma and other associated lung (pulmonary) abnormalities (i.e., pulmonary infiltrates) often precede the development of the generalized (systemic) symptoms and signs by as little as six months or as much as two decades. Asthma, a chronic respiratory disorder, is characterized by inflammation and narrowing of the lungs’ airways, causing difficulties breathing (dyspnea), coughing, the production of a high-pitched whistling sound while breathing (wheezing), and/or other symptoms and findings. Nonspecific findings associated with Churg-Strauss syndrome typically include flu-like symptoms, such as fever, a general feeling of weakness and fatigue (malaise), loss of appetite (anorexia), weight loss, and muscle pain (myalgia). Additional symptoms and findings may vary depending upon the specific organ systems affected. The nerves outside the central nervous system (peripheral nerves), kidneys, or gastrointestinal tract are often involved. Without appropriate treatment, serious organ damage and potentially life-threatening complications may result. Although the exact cause of Churg-Strauss syndrome is unknown, many researchers indicate that abnormal functioning of the immune system plays an important role. (For more information on this disorder, choose “Churg Strauss” as your search term in the Rare Disease Database.)Bronchiolitis obliterans organizing pneumonia (BOOP) is a rare inflammatory lung disorder. Symptoms of BOOP include a flu-like illness in many individuals, cough and shortness of breath with exertional activities. Wheezing and hemoptysis are rare. The term bronchiolitis obliterans refers to swirls or plugs of fibrous, granulation tissue filling the small bronchiole airways. Organizing pneumonia refers to organized swirls of inflammatory tissue filling the small spherical units of the lungs referred to as alveoli and the alveolar ducts. Individuals with BOOP experience inflammation of the bronchioles and alveolar lung spherical units simultaneously, which distinguishes it from other similar inflammatory lung disorders. Although several different known causes of BOOP have been identified, most cases occur for no known reason (idiopathic). Idiopathic BOOP may also be called cryptogenic organizing pneumonia (COP). Some researchers prefer the use of COP to avoid confusion with other lung disorders with similar names. The term cryptogenic denotes that the cause of the disorder is unknown. Other researchers prefer the term BOOP because it the most recognized term for the disorder. (For more information on this disorder, choose “bronchiolitis obliterans organizing pneumonia” as your search term in the Rare Disease Database.) | Related disorders of Chronic Eosinophilic Pneumonia. Symptoms of the following disorders can be similar to those of CEP. Comparisons may be useful for a differential diagnosis.Eosinophilic lung diseases are a broad group of disorders. These diseases are can be broken down into types without a known cause (idiopathic) and those with a known cause. Eosinophilic lung diseases without a known cause include CEP, AEP, Loffler’s syndrome (simple eosinophilic pneumonia), and idiopathic hypereosinophilic syndrome. Known causes of eosinophilic lung disease include allergic bronchopulmonary aspergillosis and related disorders and exposure to parasitic infections, drugs, or certain toxic substances. Systemic disorders that cause eosinophilic pneumonia include Churg-Strauss syndrome and Langerhans cell histiocytosis. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)Churg-Strauss syndrome is a rare disorder that may affect multiple organ systems, especially the lungs. The disorder is characterized by the abnormal clustering of certain white blood cells (hypereosinophilia) in the blood and tissues, inflammation of blood vessels (vasculitis), and the development of inflammatory nodular lesions called granulomas (granulomatosis). Most affected individuals have a history of allergy. In addition, in Churg-Strauss syndrome, asthma and other associated lung (pulmonary) abnormalities (i.e., pulmonary infiltrates) often precede the development of the generalized (systemic) symptoms and signs by as little as six months or as much as two decades. Asthma, a chronic respiratory disorder, is characterized by inflammation and narrowing of the lungs’ airways, causing difficulties breathing (dyspnea), coughing, the production of a high-pitched whistling sound while breathing (wheezing), and/or other symptoms and findings. Nonspecific findings associated with Churg-Strauss syndrome typically include flu-like symptoms, such as fever, a general feeling of weakness and fatigue (malaise), loss of appetite (anorexia), weight loss, and muscle pain (myalgia). Additional symptoms and findings may vary depending upon the specific organ systems affected. The nerves outside the central nervous system (peripheral nerves), kidneys, or gastrointestinal tract are often involved. Without appropriate treatment, serious organ damage and potentially life-threatening complications may result. Although the exact cause of Churg-Strauss syndrome is unknown, many researchers indicate that abnormal functioning of the immune system plays an important role. (For more information on this disorder, choose “Churg Strauss” as your search term in the Rare Disease Database.)Bronchiolitis obliterans organizing pneumonia (BOOP) is a rare inflammatory lung disorder. Symptoms of BOOP include a flu-like illness in many individuals, cough and shortness of breath with exertional activities. Wheezing and hemoptysis are rare. The term bronchiolitis obliterans refers to swirls or plugs of fibrous, granulation tissue filling the small bronchiole airways. Organizing pneumonia refers to organized swirls of inflammatory tissue filling the small spherical units of the lungs referred to as alveoli and the alveolar ducts. Individuals with BOOP experience inflammation of the bronchioles and alveolar lung spherical units simultaneously, which distinguishes it from other similar inflammatory lung disorders. Although several different known causes of BOOP have been identified, most cases occur for no known reason (idiopathic). Idiopathic BOOP may also be called cryptogenic organizing pneumonia (COP). Some researchers prefer the use of COP to avoid confusion with other lung disorders with similar names. The term cryptogenic denotes that the cause of the disorder is unknown. Other researchers prefer the term BOOP because it the most recognized term for the disorder. (For more information on this disorder, choose “bronchiolitis obliterans organizing pneumonia” as your search term in the Rare Disease Database.) | 267 | Chronic Eosinophilic Pneumonia |
nord_267_5 | Diagnosis of Chronic Eosinophilic Pneumonia | A diagnosis of CEP is based upon identification of characteristic symptoms (e.g., eosinophilic pneumonia), a detailed patient history, a thorough clinical evaluation, the absence of other known causes of eosinophilic lung disease, and a variety of specialized tests. A physical examination may reveal low levels of oxygen in the blood (hypoxemia), a rapid heart rate (tachycardia), wheezes and a rattling sound in the lungs (rales).Clinical Testing and Work-Up
Imaging techniques may be used to help confirm a diagnosis of CEP including chest x-ray or computerized tomography (CT) scanning. Chest x-rays in individuals generally show white patches (infiltrates) in the outer zones of the lungs. A CT scan may reveal hazy areas (ground-glass opacities) that are not seen on traditional x-rays. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures.An exam known as bronchoalveolar lavage (BAL) may be used to help obtain a diagnosis of CEP. During BAL, a narrow tube (bronchoscope) is slid down the windpipe into the lungs and a sterile solution is passed through the tube washing out (lavaging) cells. This fluid is collected and then the tube in removed, allowing the cells to be studied. BAL in individuals with CEP reveals abnormally high levels of eosinophils.Blood tests may reveal elevated levels of eosinophils and/or serum immunoglobulin E (IgE). Pulmonary function tests are normal in mild cases, but in more severe cases can show a restricted or obstructed pattern. Additional tests may be performed to rule out other conditions or other causes of pulmonary eosinophilia. | Diagnosis of Chronic Eosinophilic Pneumonia. A diagnosis of CEP is based upon identification of characteristic symptoms (e.g., eosinophilic pneumonia), a detailed patient history, a thorough clinical evaluation, the absence of other known causes of eosinophilic lung disease, and a variety of specialized tests. A physical examination may reveal low levels of oxygen in the blood (hypoxemia), a rapid heart rate (tachycardia), wheezes and a rattling sound in the lungs (rales).Clinical Testing and Work-Up
Imaging techniques may be used to help confirm a diagnosis of CEP including chest x-ray or computerized tomography (CT) scanning. Chest x-rays in individuals generally show white patches (infiltrates) in the outer zones of the lungs. A CT scan may reveal hazy areas (ground-glass opacities) that are not seen on traditional x-rays. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures.An exam known as bronchoalveolar lavage (BAL) may be used to help obtain a diagnosis of CEP. During BAL, a narrow tube (bronchoscope) is slid down the windpipe into the lungs and a sterile solution is passed through the tube washing out (lavaging) cells. This fluid is collected and then the tube in removed, allowing the cells to be studied. BAL in individuals with CEP reveals abnormally high levels of eosinophils.Blood tests may reveal elevated levels of eosinophils and/or serum immunoglobulin E (IgE). Pulmonary function tests are normal in mild cases, but in more severe cases can show a restricted or obstructed pattern. Additional tests may be performed to rule out other conditions or other causes of pulmonary eosinophilia. | 267 | Chronic Eosinophilic Pneumonia |
nord_267_6 | Therapies of Chronic Eosinophilic Pneumonia | TreatmentIndividuals with CEP respond rapidly and often dramatically to oral corticosteroid therapy such as prednisone. There is no agreed upon initial dose recommended in the medical literature. Significant improvement is often seen within one to two weeks, but can occur within 48 hours. Relapse of CEP is common, especially if corticosteroid therapy is stopped within the first 6 months of treatment. In some cases, simply lowering the dose (tapering) can cause a relapse. Relapses have been reported as late as 10 years after initial therapy. Many individuals need long-term corticosteroid therapy, which can potentially be associated with side-effects. In approximately 10% of patients, symptoms go away without treatment (spontaneous remission). | Therapies of Chronic Eosinophilic Pneumonia. TreatmentIndividuals with CEP respond rapidly and often dramatically to oral corticosteroid therapy such as prednisone. There is no agreed upon initial dose recommended in the medical literature. Significant improvement is often seen within one to two weeks, but can occur within 48 hours. Relapse of CEP is common, especially if corticosteroid therapy is stopped within the first 6 months of treatment. In some cases, simply lowering the dose (tapering) can cause a relapse. Relapses have been reported as late as 10 years after initial therapy. Many individuals need long-term corticosteroid therapy, which can potentially be associated with side-effects. In approximately 10% of patients, symptoms go away without treatment (spontaneous remission). | 267 | Chronic Eosinophilic Pneumonia |
nord_268_0 | Overview of Chronic Granulomatous Disease | Chronic granulomatous disease (CGD) is a rare inherited primary immune deficiency disorder that affects certain white blood cells (neutrophils, monocytes, macrophages, eosinophils). The disorder is characterized by an inability to resist infections caused by certain types of bacterial and fungal species and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver and bones may occur. In addition, patients can develop swollen areas of inflamed tissues known as granulomas that can be widely distributed, as well as other inflammatory conditions, including those involving the gastrointestinal tract. Symptoms usually begin in infancy or childhood. Individuals with mild forms of the disorder may not develop symptoms until the teens or adulthood. Chronic granulomatous disease is a genetic disorder caused by changes (variants or mutations) in genes responsible for producing an important enzyme in white blood cells. Certain white blood cells use this enzyme to produce hydrogen peroxide that these cells need to kill certain bacteria and fungi and to properly regulate white blood cell responses to inflammation. These oxidants also regulate white blood cell pathways involved in the immune response and inflammation even in the absence of infection. Thus, patients with CGD have problems with both infections and increased inflammation. | Overview of Chronic Granulomatous Disease. Chronic granulomatous disease (CGD) is a rare inherited primary immune deficiency disorder that affects certain white blood cells (neutrophils, monocytes, macrophages, eosinophils). The disorder is characterized by an inability to resist infections caused by certain types of bacterial and fungal species and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver and bones may occur. In addition, patients can develop swollen areas of inflamed tissues known as granulomas that can be widely distributed, as well as other inflammatory conditions, including those involving the gastrointestinal tract. Symptoms usually begin in infancy or childhood. Individuals with mild forms of the disorder may not develop symptoms until the teens or adulthood. Chronic granulomatous disease is a genetic disorder caused by changes (variants or mutations) in genes responsible for producing an important enzyme in white blood cells. Certain white blood cells use this enzyme to produce hydrogen peroxide that these cells need to kill certain bacteria and fungi and to properly regulate white blood cell responses to inflammation. These oxidants also regulate white blood cell pathways involved in the immune response and inflammation even in the absence of infection. Thus, patients with CGD have problems with both infections and increased inflammation. | 268 | Chronic Granulomatous Disease |
nord_268_1 | Symptoms of Chronic Granulomatous Disease | Chronic granulomatous disease is characterized by a susceptibility to repeated bacterial and fungal infections. CGD can also be associated with the development of granulomatous lesions of the skin, lungs, bones and lymph nodes formed by collections of inflammatory white blood cells. Excess gamma globulin in the blood (hypergammaglobulinemia), low levels of circulating red blood cells (anemia), an increase in white blood cells (leukocytosis) can occur as a result of repeated infections or chronic inflammation. Evidence of chronic infections may be seen in the liver, gastrointestinal tract, brain and eyes.There is usually a history of repeated infections, including inflammation of the lymph glands (suppurative lymphadenitis), skin infections and pneumonia. Blood studies can show evidence of chronic infection. There may also be a persistent runny nose (rhinitis), inflammation of the skin (dermatitis) and an inflammation of the mucous membranes of the mouth (stomatitis). Gastrointestinal problems can also occur, including diarrhea, abdominal pain, colitis and perianal abscesses.Infection of the bones (osteomyelitis), brain abscesses, obstruction of the genitourinary tract and/or gastrointestinal tract due to the formation of granulomatous tissue and delayed growth are also symptomatic of chronic granulomatous disease. Abnormal enlargement of the liver and spleen (hepatosplenomegaly) may also occur. Chronic lung inflammation can develop in young adults with CGD. | Symptoms of Chronic Granulomatous Disease. Chronic granulomatous disease is characterized by a susceptibility to repeated bacterial and fungal infections. CGD can also be associated with the development of granulomatous lesions of the skin, lungs, bones and lymph nodes formed by collections of inflammatory white blood cells. Excess gamma globulin in the blood (hypergammaglobulinemia), low levels of circulating red blood cells (anemia), an increase in white blood cells (leukocytosis) can occur as a result of repeated infections or chronic inflammation. Evidence of chronic infections may be seen in the liver, gastrointestinal tract, brain and eyes.There is usually a history of repeated infections, including inflammation of the lymph glands (suppurative lymphadenitis), skin infections and pneumonia. Blood studies can show evidence of chronic infection. There may also be a persistent runny nose (rhinitis), inflammation of the skin (dermatitis) and an inflammation of the mucous membranes of the mouth (stomatitis). Gastrointestinal problems can also occur, including diarrhea, abdominal pain, colitis and perianal abscesses.Infection of the bones (osteomyelitis), brain abscesses, obstruction of the genitourinary tract and/or gastrointestinal tract due to the formation of granulomatous tissue and delayed growth are also symptomatic of chronic granulomatous disease. Abnormal enlargement of the liver and spleen (hepatosplenomegaly) may also occur. Chronic lung inflammation can develop in young adults with CGD. | 268 | Chronic Granulomatous Disease |
nord_268_2 | Causes of Chronic Granulomatous Disease | Chronic granulomatous disease is a genetic disease. Changes (variants or mutations) in any one of five different genes can cause a defect in an enzyme called phagocyte NADPH oxidase. Certain white blood cells use this enzyme to produce hydrogen peroxide, which these cells need to kill certain bacteria and fungi and to properly regulate white blood cell responses to inflammation.There is a form (X-linked recessive) of CGD that primarily affects males. The remaining cases of CGD are inherited in an autosomal recessive pattern, which can affect both males and females.X-linked genetic disorders are conditions caused by a mutated gene on the X chromosome and mostly affect males. Females who have a mutated gene on one of their X chromosomes are carriers for that disorder. Carrier females usually do not have symptoms because females have two X chromosomes and only one carries the mutated gene. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a mutated gene, he will develop the disease. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son. If a male with an X-linked disorder can reproduce, he will pass the mutated gene to all his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male children. Recessive genetic disorders occur when an individual inherits a mutated gene from each parent. If an individual receives one normal gene and one mutated gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the mutated gene and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females. | Causes of Chronic Granulomatous Disease. Chronic granulomatous disease is a genetic disease. Changes (variants or mutations) in any one of five different genes can cause a defect in an enzyme called phagocyte NADPH oxidase. Certain white blood cells use this enzyme to produce hydrogen peroxide, which these cells need to kill certain bacteria and fungi and to properly regulate white blood cell responses to inflammation.There is a form (X-linked recessive) of CGD that primarily affects males. The remaining cases of CGD are inherited in an autosomal recessive pattern, which can affect both males and females.X-linked genetic disorders are conditions caused by a mutated gene on the X chromosome and mostly affect males. Females who have a mutated gene on one of their X chromosomes are carriers for that disorder. Carrier females usually do not have symptoms because females have two X chromosomes and only one carries the mutated gene. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a mutated gene, he will develop the disease. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son. If a male with an X-linked disorder can reproduce, he will pass the mutated gene to all his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male children. Recessive genetic disorders occur when an individual inherits a mutated gene from each parent. If an individual receives one normal gene and one mutated gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the mutated gene and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females. | 268 | Chronic Granulomatous Disease |
nord_268_3 | Affects of Chronic Granulomatous Disease | Chronic granulomatous disease affects males more often than females. In North American and European studies, approximately, two-thirds of individuals have the X-linked recessive form of the disorder. Symptoms from CGD usually first occur during infancy or childhood, but sometimes may be delayed until the early teens. In a few cases, the first symptoms have been known to occur in adulthood.
It is estimated that about four to five in every million people worldwide have chronic granulomatous disease. | Affects of Chronic Granulomatous Disease. Chronic granulomatous disease affects males more often than females. In North American and European studies, approximately, two-thirds of individuals have the X-linked recessive form of the disorder. Symptoms from CGD usually first occur during infancy or childhood, but sometimes may be delayed until the early teens. In a few cases, the first symptoms have been known to occur in adulthood.
It is estimated that about four to five in every million people worldwide have chronic granulomatous disease. | 268 | Chronic Granulomatous Disease |
nord_268_4 | Related disorders of Chronic Granulomatous Disease | Symptoms of the following disorders can be similar to those of chronic granulomatous disease. Comparisons may be useful for a differential diagnosis:Granulomatosis with polyangiitis is an uncommon collagen vascular disorder (also referred to as connective tissue disorder) affecting the blood vessels. This is a type of autoimmune disorder that begins as a localized inflammation of the upper and lower respiratory tract mucous membranes, and usually progresses into generalized inflammation of the blood vessels (vasculitis) and kidney (glomerulonephritis). Initial symptoms usually appear as a severe cold progressing to sinusitis, ulcerations of the mucous membranes in the nose with secondary bacterial infection, middle ear infection (otitis media), cough, expectoration of blood (hemoptysis) and pleuritis. The nasal mucous membrane appears red with a raised granular appearance. There may also be fever, loss of appetite and generalized discomfort. (For more information on this disorder, choose “granulomatosis with polyangiitis” as your search term in the Rare Disease Database.)Sarcoidosis is a multisystem disorder that most often affects individuals between 20 and 40 years of age. It is characterized by the abnormal formation of inflammatory masses or nodules (granulomas) consisting of certain granular white blood cells (modified macrophages or epithelioid cells) in certain organs of the body. The granulomas that are formed are thought to alter the normal structure of and, potentially, the normal functions of, the affected organ(s), causing symptoms. In individuals with sarcoidosis, such granuloma formation most commonly affects the lungs. However, in many people, the upper respiratory system, lymph nodes, skin and/or eyes may be involved. In some people, other organs may be affected, including the liver, bone marrow, spleen, musculoskeletal system, heart, salivary glands and/or nervous system (i.e., central or peripheral nervous system). The range and severity of symptoms associated with sarcoidosis vary greatly, depending upon the specific organ(s) involved and the degree of such involvement. The symptoms of sarcoidosis may begin suddenly (acute), sometimes severely, and subside in a relatively short period of time (self-limited). Acute sarcoidosis is often characterized by fatigue, fever, generalized muscle aches, difficulty breathing (dyspnea), joint pain, swollen glands, skin eruptions, eye irregularities and/or other symptoms. In the subacute form, affected individuals may experience no symptoms (asymptomatic), even with organ involvement. In the chronic form of sarcoidosis, symptoms may appear slowly and subtly, and may persist or recur over a long time span. Symptoms associated with other organ involvement may follow. The exact cause of sarcoidosis is not known.Churg-Strauss syndrome is a rare disorder that may affect multiple organ systems, particularly the lungs. The disorder is characterized by the formation and accumulation of an unusually large number of antibodies, abnormal clustering of certain white blood cells (eosinophilia), inflammation of blood vessels (vasculitis) and the development of inflammatory nodular lesions (granulomatosis). Many individuals with Churg-Strauss syndrome have a history of allergy. In addition, asthma and other associated lung (pulmonary) abnormalities (i.e., pulmonary infiltrates) often precede the development of the generalized (systemic) symptoms and findings seen in Churg-Strauss syndrome by one or more years. Asthma, a chronic respiratory disorder, is characterized by inflammation and narrowing of the lungs’ airways, causing difficulties breathing (dyspnea), coughing and/or other symptoms and findings. Nonspecific findings associated with Churg-Strauss syndrome typically include flu-like symptoms, such as fever, a general feeling of weakness and fatigue (malaise), loss of appetite (anorexia), weight loss and muscle pain (myalgia). Additional symptoms and findings may be variable, depending upon the specific organ systems involved. Although the exact cause of Churg-Strauss syndrome is unknown, many researchers think that abnormal immunologic and autoimmune factors play an important role. (For more information on this disorder, choose “Churg-Strauss” as your search term in the Rare Disease Database.)Polyarteritis nodosa is characterized by an inflammation of the small and medium sized arteries causing narrowing of the vessels. This may result in a lack of blood supply to tissues, possible formation of blood clots (thrombosis) and weakening, ballooning (aneurysm) or possible rupture of the vessel walls. Joint, muscle, abdominal and testicular pain may occur. The patient may also have fever, weight loss and high blood pressure (hypertension). The kidney is the organ most involved. The lungs are rarely affected. Skin rash may be present and gastrointestinal symptoms such as abdominal pain, vomiting of blood (hematemesis) and tender abdomen may be present. (For more information on this disorder, choose “polyarteritis nodosa” as your search term in the Rare Disease Database.) | Related disorders of Chronic Granulomatous Disease. Symptoms of the following disorders can be similar to those of chronic granulomatous disease. Comparisons may be useful for a differential diagnosis:Granulomatosis with polyangiitis is an uncommon collagen vascular disorder (also referred to as connective tissue disorder) affecting the blood vessels. This is a type of autoimmune disorder that begins as a localized inflammation of the upper and lower respiratory tract mucous membranes, and usually progresses into generalized inflammation of the blood vessels (vasculitis) and kidney (glomerulonephritis). Initial symptoms usually appear as a severe cold progressing to sinusitis, ulcerations of the mucous membranes in the nose with secondary bacterial infection, middle ear infection (otitis media), cough, expectoration of blood (hemoptysis) and pleuritis. The nasal mucous membrane appears red with a raised granular appearance. There may also be fever, loss of appetite and generalized discomfort. (For more information on this disorder, choose “granulomatosis with polyangiitis” as your search term in the Rare Disease Database.)Sarcoidosis is a multisystem disorder that most often affects individuals between 20 and 40 years of age. It is characterized by the abnormal formation of inflammatory masses or nodules (granulomas) consisting of certain granular white blood cells (modified macrophages or epithelioid cells) in certain organs of the body. The granulomas that are formed are thought to alter the normal structure of and, potentially, the normal functions of, the affected organ(s), causing symptoms. In individuals with sarcoidosis, such granuloma formation most commonly affects the lungs. However, in many people, the upper respiratory system, lymph nodes, skin and/or eyes may be involved. In some people, other organs may be affected, including the liver, bone marrow, spleen, musculoskeletal system, heart, salivary glands and/or nervous system (i.e., central or peripheral nervous system). The range and severity of symptoms associated with sarcoidosis vary greatly, depending upon the specific organ(s) involved and the degree of such involvement. The symptoms of sarcoidosis may begin suddenly (acute), sometimes severely, and subside in a relatively short period of time (self-limited). Acute sarcoidosis is often characterized by fatigue, fever, generalized muscle aches, difficulty breathing (dyspnea), joint pain, swollen glands, skin eruptions, eye irregularities and/or other symptoms. In the subacute form, affected individuals may experience no symptoms (asymptomatic), even with organ involvement. In the chronic form of sarcoidosis, symptoms may appear slowly and subtly, and may persist or recur over a long time span. Symptoms associated with other organ involvement may follow. The exact cause of sarcoidosis is not known.Churg-Strauss syndrome is a rare disorder that may affect multiple organ systems, particularly the lungs. The disorder is characterized by the formation and accumulation of an unusually large number of antibodies, abnormal clustering of certain white blood cells (eosinophilia), inflammation of blood vessels (vasculitis) and the development of inflammatory nodular lesions (granulomatosis). Many individuals with Churg-Strauss syndrome have a history of allergy. In addition, asthma and other associated lung (pulmonary) abnormalities (i.e., pulmonary infiltrates) often precede the development of the generalized (systemic) symptoms and findings seen in Churg-Strauss syndrome by one or more years. Asthma, a chronic respiratory disorder, is characterized by inflammation and narrowing of the lungs’ airways, causing difficulties breathing (dyspnea), coughing and/or other symptoms and findings. Nonspecific findings associated with Churg-Strauss syndrome typically include flu-like symptoms, such as fever, a general feeling of weakness and fatigue (malaise), loss of appetite (anorexia), weight loss and muscle pain (myalgia). Additional symptoms and findings may be variable, depending upon the specific organ systems involved. Although the exact cause of Churg-Strauss syndrome is unknown, many researchers think that abnormal immunologic and autoimmune factors play an important role. (For more information on this disorder, choose “Churg-Strauss” as your search term in the Rare Disease Database.)Polyarteritis nodosa is characterized by an inflammation of the small and medium sized arteries causing narrowing of the vessels. This may result in a lack of blood supply to tissues, possible formation of blood clots (thrombosis) and weakening, ballooning (aneurysm) or possible rupture of the vessel walls. Joint, muscle, abdominal and testicular pain may occur. The patient may also have fever, weight loss and high blood pressure (hypertension). The kidney is the organ most involved. The lungs are rarely affected. Skin rash may be present and gastrointestinal symptoms such as abdominal pain, vomiting of blood (hematemesis) and tender abdomen may be present. (For more information on this disorder, choose “polyarteritis nodosa” as your search term in the Rare Disease Database.) | 268 | Chronic Granulomatous Disease |
nord_268_5 | Diagnosis of Chronic Granulomatous Disease | A diagnosis of chronic granulomatous disease is made based upon a thorough clinical evaluation, a detailed patient history, and specialized procedures to measure oxidant production by white blood cells. In healthy individuals, the white blood cells produce a chemical oxidant that destroys bacteria. One blood test for diagnosis of CGD uses a molecule called dihydrorhodamine 123 (DHR) to determine whether white blood cells are making these oxidants normally. Oxidants cause the DHR to fluoresce, which is markedly reduced or absent in CGD white blood cells. This test can be performed on blood samples shipped to clinical laboratories certified to perform this test. Another blood test for CGD is called the nitroblue tetrazolium (NBT) slide test. In this test, NBT is mixed with the white blood cells, which are then activated to produce oxidants that react with NBT, turning it a deep blue color. If this reaction does not occur, then these important oxidants are not being produced by an individual’s white blood cells. If CGD is diagnosed based on defects in blood cell oxidant production, genetic testing is typically recommended to determine the specific type of CGD. | Diagnosis of Chronic Granulomatous Disease. A diagnosis of chronic granulomatous disease is made based upon a thorough clinical evaluation, a detailed patient history, and specialized procedures to measure oxidant production by white blood cells. In healthy individuals, the white blood cells produce a chemical oxidant that destroys bacteria. One blood test for diagnosis of CGD uses a molecule called dihydrorhodamine 123 (DHR) to determine whether white blood cells are making these oxidants normally. Oxidants cause the DHR to fluoresce, which is markedly reduced or absent in CGD white blood cells. This test can be performed on blood samples shipped to clinical laboratories certified to perform this test. Another blood test for CGD is called the nitroblue tetrazolium (NBT) slide test. In this test, NBT is mixed with the white blood cells, which are then activated to produce oxidants that react with NBT, turning it a deep blue color. If this reaction does not occur, then these important oxidants are not being produced by an individual’s white blood cells. If CGD is diagnosed based on defects in blood cell oxidant production, genetic testing is typically recommended to determine the specific type of CGD. | 268 | Chronic Granulomatous Disease |
nord_268_6 | Therapies of Chronic Granulomatous Disease | Treatment
Treatment of chronic granulomatous disease consists of continuous antibiotic therapy to help prevent infections, such as trimethoprim and sulfamethoxazole to protect against bacterial infections and itraconazole for anti-fungal protection. Infections usually require additional antibiotics. Corticosteroid drugs are also of benefit for treating granulomatous complications. Bone marrow transplants have proven to be successful in many affected individuals with CGD, with excellent outcomes especially when performed with matched donors at a younger age.The orphan drug interferon gamma-1b (Actimmune) has been approved by the U.S.Food and Drug Administration (FDA) for the treatment of chronic granulomatous disease.Genetic counseling is recommended for affected individuals and their families. Other treatment is symptomatic and supportive. | Therapies of Chronic Granulomatous Disease. Treatment
Treatment of chronic granulomatous disease consists of continuous antibiotic therapy to help prevent infections, such as trimethoprim and sulfamethoxazole to protect against bacterial infections and itraconazole for anti-fungal protection. Infections usually require additional antibiotics. Corticosteroid drugs are also of benefit for treating granulomatous complications. Bone marrow transplants have proven to be successful in many affected individuals with CGD, with excellent outcomes especially when performed with matched donors at a younger age.The orphan drug interferon gamma-1b (Actimmune) has been approved by the U.S.Food and Drug Administration (FDA) for the treatment of chronic granulomatous disease.Genetic counseling is recommended for affected individuals and their families. Other treatment is symptomatic and supportive. | 268 | Chronic Granulomatous Disease |
nord_269_0 | Overview of Chronic Inflammatory Demyelinating Polyneuropathy | SummaryChronic inflammatory demyelinating polyneuropathy (CIDP) is a rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) of the nerve fibers. Myelin allows nerve fibers to transmit signals very rapidly (40-60 meters/second). Loss or damage to myelin can cause slowing or blockage of the nerve signals and can lead to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs. Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from person to person. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.IntroductionCIDP is sometimes thought of as the chronic form of acute inflammatory demyelinating polyneuropathy (AIDP), the most common form of Guillain Barré syndrome (GBS), in the United States and Europe. In contrast to GBS, most patients with CIDP cannot identify a preceding viral or infectious illness. GBS is a subacute disorder that progresses over 3-4 weeks, then plateaus and usually improves over months and does not usually recur. CIDP, by definition has ongoing symptoms for over 8 weeks and usually does not improve unless ongoing treatment is given. | Overview of Chronic Inflammatory Demyelinating Polyneuropathy. SummaryChronic inflammatory demyelinating polyneuropathy (CIDP) is a rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) of the nerve fibers. Myelin allows nerve fibers to transmit signals very rapidly (40-60 meters/second). Loss or damage to myelin can cause slowing or blockage of the nerve signals and can lead to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs. Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from person to person. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.IntroductionCIDP is sometimes thought of as the chronic form of acute inflammatory demyelinating polyneuropathy (AIDP), the most common form of Guillain Barré syndrome (GBS), in the United States and Europe. In contrast to GBS, most patients with CIDP cannot identify a preceding viral or infectious illness. GBS is a subacute disorder that progresses over 3-4 weeks, then plateaus and usually improves over months and does not usually recur. CIDP, by definition has ongoing symptoms for over 8 weeks and usually does not improve unless ongoing treatment is given. | 269 | Chronic Inflammatory Demyelinating Polyneuropathy |
nord_269_1 | Symptoms of Chronic Inflammatory Demyelinating Polyneuropathy | The chief symptoms of CIDP are slowly progressive (over at least 2 months) symmetric weakness of both muscles around the hip and shoulder as well as of the hands and feet (both proximal and distal muscles). This pattern of weakness, if caused by nerve damage, is highly suggestive of CIDP. Nerve signals become altered causing impairment in motor function and/or abnormal, or loss of, sensation. There are usually some alterations of sensation causing incoordination, numbness, tingling, or prickling sensations. Some patients only have sensory symptoms and signs but have the typical abnormalities of nerve conduction and respond to treatment as in CIDP in which weakness predominates. This is considered a sensory variant of CIDP.Other symptoms of CIDP include fatigue, burning, pain, clumsiness, difficulty swallowing and double vision. The neurologic examination will show weak muscles that may have lost their bulk and definition (atrophy). Deep tendon reflexes are reduced or absent. Walking will be abnormal and responses to various sensory stimuli will be impaired.Typical CIDP and Variants
CIDP has a number of clinical presentations. Typical CIDP is defined as a symmetric motor and sensory disorder that has proximal and distal weakness (including muscles of the shoulders and hips as well as the hands and feet). Deep tendon reflexes are absent.Variants of CIDP include:The fact that there are different forms of CIDP points to the fact that at this time, CIDP is a syndrome and that there may be a number of different causes of the disorder which manifest in different ways. | Symptoms of Chronic Inflammatory Demyelinating Polyneuropathy. The chief symptoms of CIDP are slowly progressive (over at least 2 months) symmetric weakness of both muscles around the hip and shoulder as well as of the hands and feet (both proximal and distal muscles). This pattern of weakness, if caused by nerve damage, is highly suggestive of CIDP. Nerve signals become altered causing impairment in motor function and/or abnormal, or loss of, sensation. There are usually some alterations of sensation causing incoordination, numbness, tingling, or prickling sensations. Some patients only have sensory symptoms and signs but have the typical abnormalities of nerve conduction and respond to treatment as in CIDP in which weakness predominates. This is considered a sensory variant of CIDP.Other symptoms of CIDP include fatigue, burning, pain, clumsiness, difficulty swallowing and double vision. The neurologic examination will show weak muscles that may have lost their bulk and definition (atrophy). Deep tendon reflexes are reduced or absent. Walking will be abnormal and responses to various sensory stimuli will be impaired.Typical CIDP and Variants
CIDP has a number of clinical presentations. Typical CIDP is defined as a symmetric motor and sensory disorder that has proximal and distal weakness (including muscles of the shoulders and hips as well as the hands and feet). Deep tendon reflexes are absent.Variants of CIDP include:The fact that there are different forms of CIDP points to the fact that at this time, CIDP is a syndrome and that there may be a number of different causes of the disorder which manifest in different ways. | 269 | Chronic Inflammatory Demyelinating Polyneuropathy |
nord_269_2 | Causes of Chronic Inflammatory Demyelinating Polyneuropathy | The exact cause of CIDP is unknown but there are strong indications that CIDP is an autoimmune disorder. Autoimmune disorders occur when the body’s natural defenses (antibodies and lymphocytes) against invading organisms suddenly begin to attack perfectly healthy tissue. The cause of autoimmune disorders is unknown. Recent studies have detected antibodies directed against constituents of peripheral nerve (neurofascin 155 and contactin 1) that cause rare variants of CIDP. These findings provide encouragement that the cause of other forms of CIDP will be recognized. | Causes of Chronic Inflammatory Demyelinating Polyneuropathy. The exact cause of CIDP is unknown but there are strong indications that CIDP is an autoimmune disorder. Autoimmune disorders occur when the body’s natural defenses (antibodies and lymphocytes) against invading organisms suddenly begin to attack perfectly healthy tissue. The cause of autoimmune disorders is unknown. Recent studies have detected antibodies directed against constituents of peripheral nerve (neurofascin 155 and contactin 1) that cause rare variants of CIDP. These findings provide encouragement that the cause of other forms of CIDP will be recognized. | 269 | Chronic Inflammatory Demyelinating Polyneuropathy |
nord_269_3 | Affects of Chronic Inflammatory Demyelinating Polyneuropathy | CIDP is a rare disorder that can affect any age group and the onset of the disorder may begin during any decade of life. CIDP affects males twice as often as females and the average age of onset is 50. The prevalence of CIDP is estimated to be around 5-7 cases per 100,000 individuals. | Affects of Chronic Inflammatory Demyelinating Polyneuropathy. CIDP is a rare disorder that can affect any age group and the onset of the disorder may begin during any decade of life. CIDP affects males twice as often as females and the average age of onset is 50. The prevalence of CIDP is estimated to be around 5-7 cases per 100,000 individuals. | 269 | Chronic Inflammatory Demyelinating Polyneuropathy |
nord_269_4 | Related disorders of Chronic Inflammatory Demyelinating Polyneuropathy | Symptoms of the following disorders can be similar to those of CIDP. Comparisons may be useful for a differential diagnosis:Multifocal motor neuropathy (MMN) is a rare disorder characterized by asymmetric or multifocal weakness of the arms and legs without sensory signs or symptoms. MMN usually affects one side of the body more than the other (asymmetric) and affects the arms more often than the legs. Degeneration (atrophy) of the muscles of the arms and legs is also often present. The disorder is usually slowly progressive over several years. The exact cause of MMN is unknown. (For more information on this disorder choose “multifocal motor neuropathy” as your search term in the Rare Disease Database.)Charcot-Marie-Tooth disease (CMT) is the name given to a group of inherited neurological disorder that progressively affects movement (mobility). Peripheral nerves become enlarged or thickened causing an irregular progression of muscle weakness. Pain, weakness, numbness, and a tingling, prickling or burning sensation can occur in the legs of individuals with this disorder. Additional symptoms may include weak response of reflexes (hyporeflexia), eye abnormalities, and abnormal curvature of the spine (kyphoscoliosis). CMT frequently is noted in childhood although adult-onset forms are recognized. (For more information on this disorder choose “Charcot-Marie-Tooth disease” as your search term in the Rare Disease Database.)Multiple sclerosis (MS) is a chronic disease of the brain and spinal cord (central nervous system) that may be progressive, relapsing and remitting, or stable. The pathology of MS consists of small lesions called plaques that may form randomly throughout the brain and spinal cord. These patches prevent proper transmission of nervous system signals and thus result in a variety of symptoms including eye abnormalities, impairment of speech, and numbness or tingling sensation in the limbs and difficulty walking. The exact cause of multiple sclerosis is unknown. (For more information on this disorder choose “multiple sclerosis” as your search term in the Rare Disease Database.)There are a number of other peripheral neuropathies that can cause similar symptoms as CIDP. The most common neuropathy is seen with diabetes mellitus, but certain toxins, medications, alcohol and nutritional deficiencies can cause nerves to become abnormal. | Related disorders of Chronic Inflammatory Demyelinating Polyneuropathy. Symptoms of the following disorders can be similar to those of CIDP. Comparisons may be useful for a differential diagnosis:Multifocal motor neuropathy (MMN) is a rare disorder characterized by asymmetric or multifocal weakness of the arms and legs without sensory signs or symptoms. MMN usually affects one side of the body more than the other (asymmetric) and affects the arms more often than the legs. Degeneration (atrophy) of the muscles of the arms and legs is also often present. The disorder is usually slowly progressive over several years. The exact cause of MMN is unknown. (For more information on this disorder choose “multifocal motor neuropathy” as your search term in the Rare Disease Database.)Charcot-Marie-Tooth disease (CMT) is the name given to a group of inherited neurological disorder that progressively affects movement (mobility). Peripheral nerves become enlarged or thickened causing an irregular progression of muscle weakness. Pain, weakness, numbness, and a tingling, prickling or burning sensation can occur in the legs of individuals with this disorder. Additional symptoms may include weak response of reflexes (hyporeflexia), eye abnormalities, and abnormal curvature of the spine (kyphoscoliosis). CMT frequently is noted in childhood although adult-onset forms are recognized. (For more information on this disorder choose “Charcot-Marie-Tooth disease” as your search term in the Rare Disease Database.)Multiple sclerosis (MS) is a chronic disease of the brain and spinal cord (central nervous system) that may be progressive, relapsing and remitting, or stable. The pathology of MS consists of small lesions called plaques that may form randomly throughout the brain and spinal cord. These patches prevent proper transmission of nervous system signals and thus result in a variety of symptoms including eye abnormalities, impairment of speech, and numbness or tingling sensation in the limbs and difficulty walking. The exact cause of multiple sclerosis is unknown. (For more information on this disorder choose “multiple sclerosis” as your search term in the Rare Disease Database.)There are a number of other peripheral neuropathies that can cause similar symptoms as CIDP. The most common neuropathy is seen with diabetes mellitus, but certain toxins, medications, alcohol and nutritional deficiencies can cause nerves to become abnormal. | 269 | Chronic Inflammatory Demyelinating Polyneuropathy |
nord_269_5 | Diagnosis of Chronic Inflammatory Demyelinating Polyneuropathy | CIDP can be difficult to diagnose. The symptoms must be present for at least two months and symmetric proximal and distal weakness with reduced or absent tendon reflexes are highly suggestive of CIDP. Tests that can be of diagnostic help include nerve conduction testing and electromyography looking for very slow nerve conduction velocities, lumbar puncture looking for elevated spinal fluid protein without many inflammatory cells and MRI imaging of the nerve roots looking for enlargement and signs of inflammation. | Diagnosis of Chronic Inflammatory Demyelinating Polyneuropathy. CIDP can be difficult to diagnose. The symptoms must be present for at least two months and symmetric proximal and distal weakness with reduced or absent tendon reflexes are highly suggestive of CIDP. Tests that can be of diagnostic help include nerve conduction testing and electromyography looking for very slow nerve conduction velocities, lumbar puncture looking for elevated spinal fluid protein without many inflammatory cells and MRI imaging of the nerve roots looking for enlargement and signs of inflammation. | 269 | Chronic Inflammatory Demyelinating Polyneuropathy |
nord_269_6 | Therapies of Chronic Inflammatory Demyelinating Polyneuropathy | Treatment
There are a number of treatments available to control CIDP. The best studied treatments that have been shown to be effective are glucocorticoids (steroids), intravenous immunoglobulin (IVIg) and plasma exchange (PLEx). All the treatments suppress or modulate the immune system and there are increased risks of infection and cancer that must be considered when treatment decisions are being made.Glucocorticoid drugs such as prednisone have been proven to be effective in treating individuals with CIDP. In many cases, individuals with CIDP may respond to corticosteroid treatment alone. However, individuals requiring high doses of corticosteroid drugs may experience side effects that deter long-term therapy. Corticosteroids may also be used in conjunction with other drugs such as those that suppress the immune system (immunosuppressive drugs).Intravenous immunoglobulin (IVIG) has been proven to be effective and is often used as a treatment for chronic inflammatory demyelinating polyneuropathy. IVIG can enhance the immune system. Very high doses are usually used for initial treatment of CIDP and most patients require continued intermittent treatments. Subcutaneous delivery of immunoglobulin (SCIG) has also been shown to be effective for maintenance treatment and provides an alternative to IVIg.Plasma exchange (PE) has also been shown to be of benefit in chronic inflammatory demyelinating polyneuropathy. This procedure is a method for removing immunoglobulins and other components of the immune response from the blood. Blood is removed from an affected individual and the blood cells are separated from plasma. The plasma is then replaced with albumin (a protein in the plasma that is not involved in immune responses) and saline (salt water) and the patient’s blood cells are transfused back into the affected individual, thus removing only the plasma and its constituents. Similar to IVIG, PE is effective only for a few weeks and may require chronic intermittent treatments.Immunosuppressive agents such as azathioprine, mycophenolate, methotrexate, cyclosporine and cyclophosphamide have been used to treat CIDP and although there are many case reports and small series pointing to efficacy, they have not been proven to be effective in large patient trials. | Therapies of Chronic Inflammatory Demyelinating Polyneuropathy. Treatment
There are a number of treatments available to control CIDP. The best studied treatments that have been shown to be effective are glucocorticoids (steroids), intravenous immunoglobulin (IVIg) and plasma exchange (PLEx). All the treatments suppress or modulate the immune system and there are increased risks of infection and cancer that must be considered when treatment decisions are being made.Glucocorticoid drugs such as prednisone have been proven to be effective in treating individuals with CIDP. In many cases, individuals with CIDP may respond to corticosteroid treatment alone. However, individuals requiring high doses of corticosteroid drugs may experience side effects that deter long-term therapy. Corticosteroids may also be used in conjunction with other drugs such as those that suppress the immune system (immunosuppressive drugs).Intravenous immunoglobulin (IVIG) has been proven to be effective and is often used as a treatment for chronic inflammatory demyelinating polyneuropathy. IVIG can enhance the immune system. Very high doses are usually used for initial treatment of CIDP and most patients require continued intermittent treatments. Subcutaneous delivery of immunoglobulin (SCIG) has also been shown to be effective for maintenance treatment and provides an alternative to IVIg.Plasma exchange (PE) has also been shown to be of benefit in chronic inflammatory demyelinating polyneuropathy. This procedure is a method for removing immunoglobulins and other components of the immune response from the blood. Blood is removed from an affected individual and the blood cells are separated from plasma. The plasma is then replaced with albumin (a protein in the plasma that is not involved in immune responses) and saline (salt water) and the patient’s blood cells are transfused back into the affected individual, thus removing only the plasma and its constituents. Similar to IVIG, PE is effective only for a few weeks and may require chronic intermittent treatments.Immunosuppressive agents such as azathioprine, mycophenolate, methotrexate, cyclosporine and cyclophosphamide have been used to treat CIDP and although there are many case reports and small series pointing to efficacy, they have not been proven to be effective in large patient trials. | 269 | Chronic Inflammatory Demyelinating Polyneuropathy |
nord_270_0 | Overview of Chronic Intestinal Pseudo-Obstruction | Chronic intestinal pseudo-obstruction (CIP) is a rare, potentially disabling gastrointestinal disorder characterized by abnormalities affecting the involuntary, coordinated muscular contractions (a process called peristalsis) of the gastrointestinal (GI) tract. Peristalsis propels food and other material through the digestive system under the control of nerves, pacemaker cells and hormones. CIP usually results from abnormalities affecting the muscles or nerves that are involved in peristalsis. Consequently, peristalsis becomes altered and inefficient. The symptoms of CIP resemble those caused by mechanical obstruction of the small bowel. Mechanical obstruction refers to something (such as a tumor, scar tissue, etc.) physically blocking the passage of food and other material through the GI tract. In individuals with CIP no such physical obstruction is present, hence the term pseudo-obstruction. Common symptoms include nausea, vomiting, abdominal pain, abdominal swelling (distention) and constipation. Ultimately, normal nutritional requirements cannot be met leading to unintended weight loss and malnourishment. CIP can potentially cause severe, even life-threatening complications.There is no agreed upon classification system for CIP and proposed classification systems tend to be complex and confusing. There are also many different causes of CIP, which only adds to the confusion. The unifying concept for CIP regardless of cause is an abnormality affecting the passage of food and other material through the digestive system (gastrointestinal motility). Generally, CIP is broken down into two main forms depending on whether the disorder involves the muscles (myopathic CIP) or nerves (neuropathic CIP) of the GI tract that are involved in peristalsis. Some researchers lump enteric dysmotility together with CIP. The prognosis of this separate yet similar condition is different from CIP. This report deals solely with the strict definition of CIP as a disorder that causes an “obstruction-like” picture. | Overview of Chronic Intestinal Pseudo-Obstruction. Chronic intestinal pseudo-obstruction (CIP) is a rare, potentially disabling gastrointestinal disorder characterized by abnormalities affecting the involuntary, coordinated muscular contractions (a process called peristalsis) of the gastrointestinal (GI) tract. Peristalsis propels food and other material through the digestive system under the control of nerves, pacemaker cells and hormones. CIP usually results from abnormalities affecting the muscles or nerves that are involved in peristalsis. Consequently, peristalsis becomes altered and inefficient. The symptoms of CIP resemble those caused by mechanical obstruction of the small bowel. Mechanical obstruction refers to something (such as a tumor, scar tissue, etc.) physically blocking the passage of food and other material through the GI tract. In individuals with CIP no such physical obstruction is present, hence the term pseudo-obstruction. Common symptoms include nausea, vomiting, abdominal pain, abdominal swelling (distention) and constipation. Ultimately, normal nutritional requirements cannot be met leading to unintended weight loss and malnourishment. CIP can potentially cause severe, even life-threatening complications.There is no agreed upon classification system for CIP and proposed classification systems tend to be complex and confusing. There are also many different causes of CIP, which only adds to the confusion. The unifying concept for CIP regardless of cause is an abnormality affecting the passage of food and other material through the digestive system (gastrointestinal motility). Generally, CIP is broken down into two main forms depending on whether the disorder involves the muscles (myopathic CIP) or nerves (neuropathic CIP) of the GI tract that are involved in peristalsis. Some researchers lump enteric dysmotility together with CIP. The prognosis of this separate yet similar condition is different from CIP. This report deals solely with the strict definition of CIP as a disorder that causes an “obstruction-like” picture. | 270 | Chronic Intestinal Pseudo-Obstruction |
nord_270_1 | Symptoms of Chronic Intestinal Pseudo-Obstruction | The specific symptoms and severity of CIP can vary greatly from one person to another, depending, in part, on the exact location and extent of the disease within the gastrointestinal tract. Any area of the GI tract can potentially be affected, but the small bowel is most commonly affected. By definition, CIP is chronic in nature and individuals usually have continuous symptoms of bowel obstruction. However, affected individuals may also experience recurrent episodes or “acute attacks” during which time symptoms worsen and become more pronounced. In between such episodes, affected individuals may experience vague, nonspecific symptoms relating to the GI tract and bowel obstruction. In extremely rare cases, some affected individuals do not have symptoms in between such attacks. It is important to note that affected individuals may not have all of the symptoms discussed below and that the severity of the disorder can vary dramatically. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.Children generally show symptoms of CIP at birth and may have a severe expression of the disorder. In less severe cases, symptoms may not develop until months later. Some symptoms may be intermittent and may only occur during an acute crisis or episode. In severe cases, CIP can potentially cause significant, life-threatening complications during infancy or early childhood. Common symptoms include nausea and vomiting, abdominal swelling or bloating (distention), abdominal cramps, abdominal pain and constipation. Although constipation is more common, some affected individuals may experience a complete lack of bowel movements and have no gas in the GI tract (lack of flatus). Abdominal pain may be chronic in some cases while in other cases it may only occur during acute episodes. Abdominal pain has been described as either sharp or stabbing versus a dull ache or general discomfort. Some infants and children may also experience early fullness (satiety), an aversion to food and eating, and unintended weight loss or poor weight gain. Over time, bacterial infections and poor absorption of nutrients (malabsorption) may occur, ultimately resulting in malnutrition. Less often, diarrhea may occur, most likely due to bacterial infection. The progression and natural history of CIP is not well studied in adults. Most likely, affected individuals have vague, non-specific gastrointestinal complaints for years before a diagnosis of CIP is suspected. Recurrent and severe abdominal pain may be the most common symptom in adults. Adults may also experience nausea and vomiting, constipation, and abnormal swelling or bloating of the abdomen. Unintended weight loss and loss of appetite may also develop. Eventually, affected individuals may experience bacterial infections, malabsorption and malnutrition. In severe cases, affected individuals can develop cachexia – a physical wasting syndrome characterized by loss of weigh and muscle mass. In both children and adults additional symptoms can occur. Involvement of the esophagus can result in difficulty swallowing (dysphagia), chest pain and heartburn. In some cases, CIP may affect the urinary tract or bladder causing symptoms such as widening of the small tubes that carry urine from the kidneys (ureters) and difficulty urinating (dysuria). This occurs more often in myopathic CIP than in neuropathic CIP. | Symptoms of Chronic Intestinal Pseudo-Obstruction. The specific symptoms and severity of CIP can vary greatly from one person to another, depending, in part, on the exact location and extent of the disease within the gastrointestinal tract. Any area of the GI tract can potentially be affected, but the small bowel is most commonly affected. By definition, CIP is chronic in nature and individuals usually have continuous symptoms of bowel obstruction. However, affected individuals may also experience recurrent episodes or “acute attacks” during which time symptoms worsen and become more pronounced. In between such episodes, affected individuals may experience vague, nonspecific symptoms relating to the GI tract and bowel obstruction. In extremely rare cases, some affected individuals do not have symptoms in between such attacks. It is important to note that affected individuals may not have all of the symptoms discussed below and that the severity of the disorder can vary dramatically. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.Children generally show symptoms of CIP at birth and may have a severe expression of the disorder. In less severe cases, symptoms may not develop until months later. Some symptoms may be intermittent and may only occur during an acute crisis or episode. In severe cases, CIP can potentially cause significant, life-threatening complications during infancy or early childhood. Common symptoms include nausea and vomiting, abdominal swelling or bloating (distention), abdominal cramps, abdominal pain and constipation. Although constipation is more common, some affected individuals may experience a complete lack of bowel movements and have no gas in the GI tract (lack of flatus). Abdominal pain may be chronic in some cases while in other cases it may only occur during acute episodes. Abdominal pain has been described as either sharp or stabbing versus a dull ache or general discomfort. Some infants and children may also experience early fullness (satiety), an aversion to food and eating, and unintended weight loss or poor weight gain. Over time, bacterial infections and poor absorption of nutrients (malabsorption) may occur, ultimately resulting in malnutrition. Less often, diarrhea may occur, most likely due to bacterial infection. The progression and natural history of CIP is not well studied in adults. Most likely, affected individuals have vague, non-specific gastrointestinal complaints for years before a diagnosis of CIP is suspected. Recurrent and severe abdominal pain may be the most common symptom in adults. Adults may also experience nausea and vomiting, constipation, and abnormal swelling or bloating of the abdomen. Unintended weight loss and loss of appetite may also develop. Eventually, affected individuals may experience bacterial infections, malabsorption and malnutrition. In severe cases, affected individuals can develop cachexia – a physical wasting syndrome characterized by loss of weigh and muscle mass. In both children and adults additional symptoms can occur. Involvement of the esophagus can result in difficulty swallowing (dysphagia), chest pain and heartburn. In some cases, CIP may affect the urinary tract or bladder causing symptoms such as widening of the small tubes that carry urine from the kidneys (ureters) and difficulty urinating (dysuria). This occurs more often in myopathic CIP than in neuropathic CIP. | 270 | Chronic Intestinal Pseudo-Obstruction |
nord_270_2 | Causes of Chronic Intestinal Pseudo-Obstruction | CIP is generally broken down into primary CIP, in which there is an intrinsic defect affecting the muscles or nerves that control the passage of food and other material through the GI tract, and secondary CIP, in which the disorder results from another, underlying non-gastrointestinal disorder or condition. In many cases the cause of CIP is unknown; these cases may be categorized as idiopathic and are sometimes referred to as chronic idiopathic intestinal pseudo-obstruction (CIIP). Primary CIP is further broken down into two subgroups – myopathic CIP and neuropathic CIP – depending on whether the condition results primarily in abnormalities of muscles within the GI tract (visceral myopathy) or abnormalities of nerves within the GI tract (visceral neuropathy). A variety of poorly understood familial and acquired disorders that damage intestinal muscle or nerves can cause primary CIP. Consequently, primary CIP may also be separated by three additional subcategories – congenital (present at birth), familial (most likely genetic), and sporadic (seemingly occurring at random). Familial cases of primary CIP may be inherited as an autosomal dominant, autosomal recessive or an X-linked trait. Several disease genes (genetic mutations) have been identified in these familial cases. Most adult cases of CIP are sporadic and secondary; most childhood cases are primary and sporadic. A wide variety of systemic, metabolic and organic diseases have been associated with secondary CIP. Such diseases including a group of autoimmune disorders called collagen vascular diseases including scleroderma, lupus, dermatomyositis, mixed connective tissue disorder and rheumatoid arthritis; endocrine disorders including diabetes mellitus, hypothyroidism or hypoparathyroidism; neurological disorders including Parkinson disease, multiple system atrophy, and Hirschsprung's disease; certain cancers causing paraneoplastic syndromes such as small cell carcinoma of the lung; muscle disorders (myopathies), including desmin myopathy, Duchenne muscular dystrophy or myotonic dystrophy; or additional disorders such as amyloidosis, Celiac disease, Ehlers-Danlos syndrome or mitochondrial neurogastrointestinal encephalopathy (MNGIE). Infections including Chagas disease, Epstein Bar virus, or cytomegalovirus can also result in secondary CIP. CIP can also occur secondary to the use of certain drugs or medications such as tricyclic antidepressants, anticholingergic agents or narcotics.CIP can also develop before birth (in utero) in select cases due to toxins or insults affecting the developing fetus. One such cause of CIP developing in utero is fetal alcohol syndrome. The symptoms of CIP are caused by abnormalities affecting muscle or nerves within the gastrointestinal tract. When the abnormality results in weakened or absent contractions, it is classified as myopathic. When the abnormality results in unsynchronized contractions, it is classified as neuropathic. Myopathic CIP is caused by injury to the smooth muscle of the GI tract. Smooth muscles are involuntary muscles – the brain has no conscious control over them. Smooth muscles react involuntarily to various stimuli. Smooth muscle lines the walls of the GI tract and helps to control the wave-like contractions (peristalsis) that aids in the digestion and transport of food. Neuropathic CIP is usually caused by damage to the enteric nervous system, which is sometimes referred to as the brain in the gut. The nerves of the enteric nervous system are embedded in the walls of the digestive tract all the way from the esophagus to the anus. The enteric nervous system is involved in various processes in the GI tract including peristalsis and is vital to overall health and well-being. Less often, neuropathic CIP can be caused by abnormalities affecting other nerve cells in the GI tract. In some cases, CIP is caused by damage to the interstitial cells of Cajal (ICC), which are the pacemaker cells of the GI tract. These cells are now known to be critical for proper GI motility. Interstitial cells of Cajal help to generate and maintain electrical rhythmic activity within the GI tract. Interstitial cells of Cajal also play a role in amplifying signals from nerve cells (neurons) to smooth muscle cells. Individuals with CIP due to abnormalities of these cells have signs of both muscle and nerve disease in the GI tract. Examination of tissue from the gut of patients with CIP showed that commonly, both the muscle and nerves are affected by the disease process. | Causes of Chronic Intestinal Pseudo-Obstruction. CIP is generally broken down into primary CIP, in which there is an intrinsic defect affecting the muscles or nerves that control the passage of food and other material through the GI tract, and secondary CIP, in which the disorder results from another, underlying non-gastrointestinal disorder or condition. In many cases the cause of CIP is unknown; these cases may be categorized as idiopathic and are sometimes referred to as chronic idiopathic intestinal pseudo-obstruction (CIIP). Primary CIP is further broken down into two subgroups – myopathic CIP and neuropathic CIP – depending on whether the condition results primarily in abnormalities of muscles within the GI tract (visceral myopathy) or abnormalities of nerves within the GI tract (visceral neuropathy). A variety of poorly understood familial and acquired disorders that damage intestinal muscle or nerves can cause primary CIP. Consequently, primary CIP may also be separated by three additional subcategories – congenital (present at birth), familial (most likely genetic), and sporadic (seemingly occurring at random). Familial cases of primary CIP may be inherited as an autosomal dominant, autosomal recessive or an X-linked trait. Several disease genes (genetic mutations) have been identified in these familial cases. Most adult cases of CIP are sporadic and secondary; most childhood cases are primary and sporadic. A wide variety of systemic, metabolic and organic diseases have been associated with secondary CIP. Such diseases including a group of autoimmune disorders called collagen vascular diseases including scleroderma, lupus, dermatomyositis, mixed connective tissue disorder and rheumatoid arthritis; endocrine disorders including diabetes mellitus, hypothyroidism or hypoparathyroidism; neurological disorders including Parkinson disease, multiple system atrophy, and Hirschsprung's disease; certain cancers causing paraneoplastic syndromes such as small cell carcinoma of the lung; muscle disorders (myopathies), including desmin myopathy, Duchenne muscular dystrophy or myotonic dystrophy; or additional disorders such as amyloidosis, Celiac disease, Ehlers-Danlos syndrome or mitochondrial neurogastrointestinal encephalopathy (MNGIE). Infections including Chagas disease, Epstein Bar virus, or cytomegalovirus can also result in secondary CIP. CIP can also occur secondary to the use of certain drugs or medications such as tricyclic antidepressants, anticholingergic agents or narcotics.CIP can also develop before birth (in utero) in select cases due to toxins or insults affecting the developing fetus. One such cause of CIP developing in utero is fetal alcohol syndrome. The symptoms of CIP are caused by abnormalities affecting muscle or nerves within the gastrointestinal tract. When the abnormality results in weakened or absent contractions, it is classified as myopathic. When the abnormality results in unsynchronized contractions, it is classified as neuropathic. Myopathic CIP is caused by injury to the smooth muscle of the GI tract. Smooth muscles are involuntary muscles – the brain has no conscious control over them. Smooth muscles react involuntarily to various stimuli. Smooth muscle lines the walls of the GI tract and helps to control the wave-like contractions (peristalsis) that aids in the digestion and transport of food. Neuropathic CIP is usually caused by damage to the enteric nervous system, which is sometimes referred to as the brain in the gut. The nerves of the enteric nervous system are embedded in the walls of the digestive tract all the way from the esophagus to the anus. The enteric nervous system is involved in various processes in the GI tract including peristalsis and is vital to overall health and well-being. Less often, neuropathic CIP can be caused by abnormalities affecting other nerve cells in the GI tract. In some cases, CIP is caused by damage to the interstitial cells of Cajal (ICC), which are the pacemaker cells of the GI tract. These cells are now known to be critical for proper GI motility. Interstitial cells of Cajal help to generate and maintain electrical rhythmic activity within the GI tract. Interstitial cells of Cajal also play a role in amplifying signals from nerve cells (neurons) to smooth muscle cells. Individuals with CIP due to abnormalities of these cells have signs of both muscle and nerve disease in the GI tract. Examination of tissue from the gut of patients with CIP showed that commonly, both the muscle and nerves are affected by the disease process. | 270 | Chronic Intestinal Pseudo-Obstruction |
nord_270_3 | Affects of Chronic Intestinal Pseudo-Obstruction | CIP affects males and females in equal numbers and can affect individuals of any age. The prevalence of CIP in the general population is unknown. According to some sources approximately 100 new cases of CIP are reported in children in the United States each year. However, CIP often goes unrecognized or misdiagnosed making it extremely difficult to determine the true frequency of CIP in the general population. Children are predominantly affected by primary, non-familial, sporadic CIP. Adults are generally affected by secondary CIP, most often due to systemic diseases such as scleroderma, diabetes, or paraneoplastic syndromes. | Affects of Chronic Intestinal Pseudo-Obstruction. CIP affects males and females in equal numbers and can affect individuals of any age. The prevalence of CIP in the general population is unknown. According to some sources approximately 100 new cases of CIP are reported in children in the United States each year. However, CIP often goes unrecognized or misdiagnosed making it extremely difficult to determine the true frequency of CIP in the general population. Children are predominantly affected by primary, non-familial, sporadic CIP. Adults are generally affected by secondary CIP, most often due to systemic diseases such as scleroderma, diabetes, or paraneoplastic syndromes. | 270 | Chronic Intestinal Pseudo-Obstruction |
nord_270_4 | Related disorders of Chronic Intestinal Pseudo-Obstruction | Symptoms of the following disorders can be similar to those of CIP. Comparisons may be useful for a differential diagnosis.The signs and symptoms of mechanical obstruction of the GI tract are virtually indistinguishable from those associated with CIP. Such symptoms include abdominal pain and bloating, nausea and vomiting and constipation. Mechanical obstruction can be caused by a variety of conditions including adhesions (scar tissue), foreign (ingested) material, gallstones, tumors, hernia, abnormal tissue growth, twisting of a loop of the intestines back around itself (volvulus), and intussusception, a condition in which one portion of the intestines slides into another much like a collapsing telescope. It is extremely important to distinguish CIP from mechanical obstruction of the GI tract as the underlying process and potential treatments are different. Ogilvie syndrome, also known as acute colonic pseudo-obstruction, is a rare disorder characterized by abnormalities affecting the involuntary, rhythmic muscular contractions (a process called peristalsis) within the colon of the large intestines. Peristalsis propels food and other material through the digestive system through the coordination of muscles, nerves and hormones. Symptoms are similar to other forms of intestinal pseudo-obstruction and can include nausea, vomiting, abdominal bloating or swelling and constipation. The symptoms of Ogilvie syndrome mimic those of a mechanical obstruction of the colon, but no such physical obstruction is present. Ogilvie syndrome is usually associated with an underlying disorder or due to trauma or surgery. (For more information on this disorder, choose “Ogilvie” as your search term in the Rare Disease Database.)A variety of gastrointestinal disorders can have signs and symptoms that are similar to those seen in CIP. Such disorders include irritable bowel syndrome (IBS), gastroparesis, functional dyspepsia, Crohn's disease, and cyclic vomiting syndrome. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.) | Related disorders of Chronic Intestinal Pseudo-Obstruction. Symptoms of the following disorders can be similar to those of CIP. Comparisons may be useful for a differential diagnosis.The signs and symptoms of mechanical obstruction of the GI tract are virtually indistinguishable from those associated with CIP. Such symptoms include abdominal pain and bloating, nausea and vomiting and constipation. Mechanical obstruction can be caused by a variety of conditions including adhesions (scar tissue), foreign (ingested) material, gallstones, tumors, hernia, abnormal tissue growth, twisting of a loop of the intestines back around itself (volvulus), and intussusception, a condition in which one portion of the intestines slides into another much like a collapsing telescope. It is extremely important to distinguish CIP from mechanical obstruction of the GI tract as the underlying process and potential treatments are different. Ogilvie syndrome, also known as acute colonic pseudo-obstruction, is a rare disorder characterized by abnormalities affecting the involuntary, rhythmic muscular contractions (a process called peristalsis) within the colon of the large intestines. Peristalsis propels food and other material through the digestive system through the coordination of muscles, nerves and hormones. Symptoms are similar to other forms of intestinal pseudo-obstruction and can include nausea, vomiting, abdominal bloating or swelling and constipation. The symptoms of Ogilvie syndrome mimic those of a mechanical obstruction of the colon, but no such physical obstruction is present. Ogilvie syndrome is usually associated with an underlying disorder or due to trauma or surgery. (For more information on this disorder, choose “Ogilvie” as your search term in the Rare Disease Database.)A variety of gastrointestinal disorders can have signs and symptoms that are similar to those seen in CIP. Such disorders include irritable bowel syndrome (IBS), gastroparesis, functional dyspepsia, Crohn's disease, and cyclic vomiting syndrome. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.) | 270 | Chronic Intestinal Pseudo-Obstruction |
nord_270_5 | Diagnosis of Chronic Intestinal Pseudo-Obstruction | A diagnosis of CIP is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests to rule out other conditions or identify underlying causes. Symptoms of CIP should be present for at least six months before a diagnosis of CIP can be made.Clinical Testing and Work-UpA variety of laboratory tests may be performed such as a complete blood count to check for anemia or infection; erythrocyte sedimentation (SED) rate, which measures how much inflammation is in the body; tests to determine the levels of serum electrolyte, thyroid hormone levels, and albumin; tests to determine how long it takes the blood to clot, which can be abnormal in individuals with bacterial overgrowth or significant nutritional deficiencies; and certain antibody tests that can be used to rule out other conditions or identify underlying causes of CIP.CIP is virtually indistinguishable from mechanical obstruction based solely on signs and symptoms. X-ray examination of the GI tract will be performed to rule out mechanical obstruction. Plain abdominal films can reveal widened (distended) bowel loops and air-fluid levels, which may also be present in intestinal obstruction and are necessary for a diagnosis of CIP. If such evidence of obstruction is found, a barium contrast study is usually performed on the entire GI tract to help rule out or identify a mechanical obstruction. Barium studies can also reveal absent or abnormal peristalsis. Ruling out short bowel obstruction is the most important distinction to make when diagnosing CIP. Short bowel obstruction is more common than CIP and can be treated surgically.Additional x-ray studies may be necessary in some cases. An upper gastrointestinal endoscopy may also be performed to rule out mechanical obstruction in the upper GI tract. During this examination, a device known as an endoscope is run down the throat. An endoscope is a thin, flexible tube that has a small camera with a light on its tip and allows a physician to examine the tissue of the lower esophagus and the junction where the esophagus meets the stomach.Computerized tomography (CT) scanning and magnetic resonance imaging (MRI) of the abdomen may also be performed. During abdominal CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures within the abdomen. An abdominal MRI uses a magnetic field and radio waves to produce cross-sectional images of the abdomen.Following x-ray studies of the GI tract, physicians may then perform a GI transit study (scintigraphy), which measures the rate at which materials travel through the digestive system. After GI transit studies, a manometry may be performed. Manometry is an examination that measures pressure or contractions within the intestinal tract. Manometry can provide further evidence for a diagnosis of CIP and can help determine the underlying cause. An esophageal manometry may also be performed to detect abnormalities of esophageal motility.Some physicians may recommend surgical removal and microscopic study of tiny amounts of GI muscle and nerve tissue (full thickness biopsy). However, the use of full thickness biopsies in the diagnosis of CIP is controversial. They require a surgical procedure known as a laparotomy to obtain the affected tissue of the bowel wall and according to some reports can potentially worsen gastrointestinal motility problems. However, such biopsies can uncover additional information about the underlying cause of the disorder and reveal the specific cells involved. Prompt diagnosis of CIP is important as delays in proper diagnosis have often led to unnecessary and potentially harmful surgical procedures. | Diagnosis of Chronic Intestinal Pseudo-Obstruction. A diagnosis of CIP is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests to rule out other conditions or identify underlying causes. Symptoms of CIP should be present for at least six months before a diagnosis of CIP can be made.Clinical Testing and Work-UpA variety of laboratory tests may be performed such as a complete blood count to check for anemia or infection; erythrocyte sedimentation (SED) rate, which measures how much inflammation is in the body; tests to determine the levels of serum electrolyte, thyroid hormone levels, and albumin; tests to determine how long it takes the blood to clot, which can be abnormal in individuals with bacterial overgrowth or significant nutritional deficiencies; and certain antibody tests that can be used to rule out other conditions or identify underlying causes of CIP.CIP is virtually indistinguishable from mechanical obstruction based solely on signs and symptoms. X-ray examination of the GI tract will be performed to rule out mechanical obstruction. Plain abdominal films can reveal widened (distended) bowel loops and air-fluid levels, which may also be present in intestinal obstruction and are necessary for a diagnosis of CIP. If such evidence of obstruction is found, a barium contrast study is usually performed on the entire GI tract to help rule out or identify a mechanical obstruction. Barium studies can also reveal absent or abnormal peristalsis. Ruling out short bowel obstruction is the most important distinction to make when diagnosing CIP. Short bowel obstruction is more common than CIP and can be treated surgically.Additional x-ray studies may be necessary in some cases. An upper gastrointestinal endoscopy may also be performed to rule out mechanical obstruction in the upper GI tract. During this examination, a device known as an endoscope is run down the throat. An endoscope is a thin, flexible tube that has a small camera with a light on its tip and allows a physician to examine the tissue of the lower esophagus and the junction where the esophagus meets the stomach.Computerized tomography (CT) scanning and magnetic resonance imaging (MRI) of the abdomen may also be performed. During abdominal CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures within the abdomen. An abdominal MRI uses a magnetic field and radio waves to produce cross-sectional images of the abdomen.Following x-ray studies of the GI tract, physicians may then perform a GI transit study (scintigraphy), which measures the rate at which materials travel through the digestive system. After GI transit studies, a manometry may be performed. Manometry is an examination that measures pressure or contractions within the intestinal tract. Manometry can provide further evidence for a diagnosis of CIP and can help determine the underlying cause. An esophageal manometry may also be performed to detect abnormalities of esophageal motility.Some physicians may recommend surgical removal and microscopic study of tiny amounts of GI muscle and nerve tissue (full thickness biopsy). However, the use of full thickness biopsies in the diagnosis of CIP is controversial. They require a surgical procedure known as a laparotomy to obtain the affected tissue of the bowel wall and according to some reports can potentially worsen gastrointestinal motility problems. However, such biopsies can uncover additional information about the underlying cause of the disorder and reveal the specific cells involved. Prompt diagnosis of CIP is important as delays in proper diagnosis have often led to unnecessary and potentially harmful surgical procedures. | 270 | Chronic Intestinal Pseudo-Obstruction |
nord_270_6 | Therapies of Chronic Intestinal Pseudo-Obstruction | TreatmentThere is no specific treatment for individuals with CIP. Treatment is directed toward the specific symptoms that are apparent in each individual, and to support adequate nutritional needs. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, pediatric gastroenterologists, surgeons, pain management specialists, psychologists, dietitians, and other healthcare professionals may need to systematically and comprehensively plan an affect individual's treatment.The specific therapeutic procedures and interventions for individuals with CIP will vary, depending upon numerous factors including the specific symptoms present, the site and extent of the affected portion of the GI tract, an individual's age and overall health, tolerance of certain medications or procedures, personal preference and other factors. Decisions concerning the use of particular therapeutic interventions should be made by physicians and other members of the healthcare team in careful consultation with the patient and/or parents based upon the specifics of his or her case; a thorough discussion of the potential benefits and risks, including possible side effects and long-term effects; patient preference; and other appropriate factors.In individuals with secondary CIP, treatment of the underlying disorder is mandatory and can provide relief of CIP symptoms. Treatment options for individuals with primary or idiopathic CIP are complex and varied and often prove difficult. The specific treatment plan may be highly individualized and can include can dietary adjustments, total parenteral nutrition (TPN), enteral feeding, certain medications and surgery.DietIndividuals with CIP are encouraged to eat five to six small meals a day rather than three large ones and to follow a low-fat, low-fiber diet. Such a diet may emphasize liquids and soft foods. Fatty foods are believed to delay gastric emptying. High fiber foods are thought to be associated with abdominal bloating and discomfort. Some physicians recommend avoiding lactose because of the high incidence of lactose intolerance in the general population. Affected individuals may also be encouraged to follow a low-residue diet, which limits foods that leave undigested parts in the GI tract (these undigested parts normally become part of stool). A low-residue diet is similar, but generally more restrictive than a low fiber diet.Affected individuals may also need to take daily multivitamins and nutritional supplements, which are beneficial for individuals who experience nutritional deficiencies and/or malnourishment.MedicationsA variety of different medications may be used to treat individuals with CIP. Medications can help to control symptoms and to avoid complications. Antibiotics may be prescribed to treat bacterial infections and can help relieve diarrhea and bloating. Drugs that are effective against nausea and vomiting (antiemetics) may also be used.Prokinetics are a class of drugs that are often prescribed to individuals with CIP with the intent of improving gastrointestinal motility. Prokinetics improve gastrointestinal motility by increasing the frequency of contractions in the small intestines without disrupting their rhythms. They have proven beneficial in some cases, but overall their effectiveness has been limited. Examples of prokinetic drugs are erythromycin, metoclopramide, domeperidone, otreotide, tegaserod and lubiprostone. A drug called cisapride is a prokinetic agent that has been used to treat CIP in the past, but is no longer widely available after being voluntarily pulled from the market in 2000 because of an association with serious cardiac arrhythmias.Low-dose tri-cyclic antidepressants and gabapentin have been used to treat chronic pain. Pain medications classified as narcotics are avoided because they can further deteriorate digestive function.Enteral or Total Parenteral NutritionSome individuals and children may be unable or unwilling to eat because of the severity of their disorder or they may be unable to maintain basic nutritional requirements even with supplementation and diet adjustments. In such cases, individuals are put on enteral or total parenteral nutrition (TPN). Enteral feeding is the use of a tube to deliver food directly into the stomach or small bowel. Eventually, affected individuals are given small amounts of food orally. It is important that infants receive small amounts of food orally in order for the infant to learn how to suck and to eat.TPN supplies all daily nutritional requirements such as protein, sugars, vitamins, minerals, carbohydrates and sometimes fats. TPN is a way to bypass how the body normally digests food. With TPN, a special intravenous (IV) line is inserted into a vein and nutrients are delivered directly into the bloodstream. The first dose of TPN is given at a hospital. Eventually, TPN is given at home. The amount of time a person requires TPN varies. TPN is more costly and dangerous than enteral feeding and every attempt should be made when possible to use the enteral path first.SurgerySome individuals with CIP may be treated by intestinal decompression, a procedure that reduces the pressure within the GI tract. Intestinal decompression is most commonly performed by inserting a tube within the intestines allowing physicians to decompress abnormally swollen (distended) segments of the intestines. Intestinal decompression can improve transport capacities and can result in a reduced rate of hospitalization for affected individuals. Bowel decompression may also be used to treat abdominal pain. In some cases, venting enterostomy can assist in relieving abdominal swelling and bloating. A venting enterostomy is a procedure in which the small intestines are diverted to an artificial opening in the abdominal wall.Rarely, and in very specific and severe cases of CIP, surgery to remove a section of the intestines may be necessary. Because surgery can potentially worsen CIP, it only has a limited role in the treatment of specific cases. When CIP is limited to an isolated portion of the bowel, surgical bypass of the affected segment may be beneficial. Certain surgeries such as the surgical removal of a segment of the intestines (enterectomy) or the surgical creation of a passage between the duodenum and jejunum can potentially decrease the frequency certain symptoms such retching, vomiting and abdominal distention.Intestinal TransplantationIn extremely severe cases, such as for individuals who do not respond to other treatments (refractory disease), who were unable to maintain proper nutrition with other therapies, who are dependent on TPN, or who experience complications from TPN such as liver failure, small bowel transplantation may be an option. During a small bowel transplant, the affected portion of the small bowel is removed and replaced with one from a healthy donor. A variety of complications can occur with small bowel transplantation including organ rejection, infections, and lymphoproliferative disease. In addition, the procedure is expensive and requires the continued use of immunosuppressive drugs to lessen the chance of rejection. However, as surgical techniques and immunosuppressive agents improve in efficacy, survival has improved as well. | Therapies of Chronic Intestinal Pseudo-Obstruction. TreatmentThere is no specific treatment for individuals with CIP. Treatment is directed toward the specific symptoms that are apparent in each individual, and to support adequate nutritional needs. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, pediatric gastroenterologists, surgeons, pain management specialists, psychologists, dietitians, and other healthcare professionals may need to systematically and comprehensively plan an affect individual's treatment.The specific therapeutic procedures and interventions for individuals with CIP will vary, depending upon numerous factors including the specific symptoms present, the site and extent of the affected portion of the GI tract, an individual's age and overall health, tolerance of certain medications or procedures, personal preference and other factors. Decisions concerning the use of particular therapeutic interventions should be made by physicians and other members of the healthcare team in careful consultation with the patient and/or parents based upon the specifics of his or her case; a thorough discussion of the potential benefits and risks, including possible side effects and long-term effects; patient preference; and other appropriate factors.In individuals with secondary CIP, treatment of the underlying disorder is mandatory and can provide relief of CIP symptoms. Treatment options for individuals with primary or idiopathic CIP are complex and varied and often prove difficult. The specific treatment plan may be highly individualized and can include can dietary adjustments, total parenteral nutrition (TPN), enteral feeding, certain medications and surgery.DietIndividuals with CIP are encouraged to eat five to six small meals a day rather than three large ones and to follow a low-fat, low-fiber diet. Such a diet may emphasize liquids and soft foods. Fatty foods are believed to delay gastric emptying. High fiber foods are thought to be associated with abdominal bloating and discomfort. Some physicians recommend avoiding lactose because of the high incidence of lactose intolerance in the general population. Affected individuals may also be encouraged to follow a low-residue diet, which limits foods that leave undigested parts in the GI tract (these undigested parts normally become part of stool). A low-residue diet is similar, but generally more restrictive than a low fiber diet.Affected individuals may also need to take daily multivitamins and nutritional supplements, which are beneficial for individuals who experience nutritional deficiencies and/or malnourishment.MedicationsA variety of different medications may be used to treat individuals with CIP. Medications can help to control symptoms and to avoid complications. Antibiotics may be prescribed to treat bacterial infections and can help relieve diarrhea and bloating. Drugs that are effective against nausea and vomiting (antiemetics) may also be used.Prokinetics are a class of drugs that are often prescribed to individuals with CIP with the intent of improving gastrointestinal motility. Prokinetics improve gastrointestinal motility by increasing the frequency of contractions in the small intestines without disrupting their rhythms. They have proven beneficial in some cases, but overall their effectiveness has been limited. Examples of prokinetic drugs are erythromycin, metoclopramide, domeperidone, otreotide, tegaserod and lubiprostone. A drug called cisapride is a prokinetic agent that has been used to treat CIP in the past, but is no longer widely available after being voluntarily pulled from the market in 2000 because of an association with serious cardiac arrhythmias.Low-dose tri-cyclic antidepressants and gabapentin have been used to treat chronic pain. Pain medications classified as narcotics are avoided because they can further deteriorate digestive function.Enteral or Total Parenteral NutritionSome individuals and children may be unable or unwilling to eat because of the severity of their disorder or they may be unable to maintain basic nutritional requirements even with supplementation and diet adjustments. In such cases, individuals are put on enteral or total parenteral nutrition (TPN). Enteral feeding is the use of a tube to deliver food directly into the stomach or small bowel. Eventually, affected individuals are given small amounts of food orally. It is important that infants receive small amounts of food orally in order for the infant to learn how to suck and to eat.TPN supplies all daily nutritional requirements such as protein, sugars, vitamins, minerals, carbohydrates and sometimes fats. TPN is a way to bypass how the body normally digests food. With TPN, a special intravenous (IV) line is inserted into a vein and nutrients are delivered directly into the bloodstream. The first dose of TPN is given at a hospital. Eventually, TPN is given at home. The amount of time a person requires TPN varies. TPN is more costly and dangerous than enteral feeding and every attempt should be made when possible to use the enteral path first.SurgerySome individuals with CIP may be treated by intestinal decompression, a procedure that reduces the pressure within the GI tract. Intestinal decompression is most commonly performed by inserting a tube within the intestines allowing physicians to decompress abnormally swollen (distended) segments of the intestines. Intestinal decompression can improve transport capacities and can result in a reduced rate of hospitalization for affected individuals. Bowel decompression may also be used to treat abdominal pain. In some cases, venting enterostomy can assist in relieving abdominal swelling and bloating. A venting enterostomy is a procedure in which the small intestines are diverted to an artificial opening in the abdominal wall.Rarely, and in very specific and severe cases of CIP, surgery to remove a section of the intestines may be necessary. Because surgery can potentially worsen CIP, it only has a limited role in the treatment of specific cases. When CIP is limited to an isolated portion of the bowel, surgical bypass of the affected segment may be beneficial. Certain surgeries such as the surgical removal of a segment of the intestines (enterectomy) or the surgical creation of a passage between the duodenum and jejunum can potentially decrease the frequency certain symptoms such retching, vomiting and abdominal distention.Intestinal TransplantationIn extremely severe cases, such as for individuals who do not respond to other treatments (refractory disease), who were unable to maintain proper nutrition with other therapies, who are dependent on TPN, or who experience complications from TPN such as liver failure, small bowel transplantation may be an option. During a small bowel transplant, the affected portion of the small bowel is removed and replaced with one from a healthy donor. A variety of complications can occur with small bowel transplantation including organ rejection, infections, and lymphoproliferative disease. In addition, the procedure is expensive and requires the continued use of immunosuppressive drugs to lessen the chance of rejection. However, as surgical techniques and immunosuppressive agents improve in efficacy, survival has improved as well. | 270 | Chronic Intestinal Pseudo-Obstruction |
nord_271_0 | Overview of Chronic Lymphocytic Leukemia | Chronic lymphocytic leukemia (CLL) is a malignant blood disorder in which there are an increased number of white blood cells in the lymphoid tissue. In CLL, the abnormal lymphocytes, also called leukemic cells, are produced instead of healthy white blood cells, and then accumulate over time. As the number of unhealthy blood cells grows, there is less room for healthy cells. The combination of fewer healthy cells and the fact that the CLL lymphocytes are poor at fighting infections can lead to frequent infection, anemia, and easy bleeding. This disease progresses slowly, and the uncontrolled buildup and enlargement of lymphoid tissue can occur in various sites of the body such as the lymph nodes, spleen, bone marrow, and lungs. CLL is the most common type of leukemia in adults and very rarely occurs in children. In the majority of individuals, chronic lymphocytic leukemia is the result of a rapid production of B lymphocyte cells (a type of white blood cell that is responsible for the production of antibodies to help fight infection). What was previously called CLL derived from T lymphocytes has been renamed as another disorder, T cell prolymphocytic leukemia. The overgrowth of cells in this T-cell disease tends to be much faster. The ability to distinguish between cells that have unmutated IgVH (Ig-unmutated CLL) and mutated IgVH (Ig-mutated CLL) has become very important in predicting the course of the disease (prognosis). Patients who have Ig-unmutated CLL have a much shorter time to treatment and historically a shorter average survival period compared to Ig-mutated CLL patients, whose average survival period exceeded 25 years even before the advent of modern therapy. These survival times however are based on much older data and are certainly longer now, with improved therapies. The other major determinant of prognosis is the chromosome makeup of the CLL, with particular concern about two higher risk chromosome abnormalities, loss of the short arm of chromosome 17 or the long arm of chromosome 11Determining the subset of CLL based on IGVH status is important because it is very predictive of prognosis. Because CLL usually progresses so slowly, many patients do not need immediate treatment and some do not even require it in their lifetime. Treatment is still based primarily on symptoms or worsening blood counts, not on these prognostic factors. | Overview of Chronic Lymphocytic Leukemia. Chronic lymphocytic leukemia (CLL) is a malignant blood disorder in which there are an increased number of white blood cells in the lymphoid tissue. In CLL, the abnormal lymphocytes, also called leukemic cells, are produced instead of healthy white blood cells, and then accumulate over time. As the number of unhealthy blood cells grows, there is less room for healthy cells. The combination of fewer healthy cells and the fact that the CLL lymphocytes are poor at fighting infections can lead to frequent infection, anemia, and easy bleeding. This disease progresses slowly, and the uncontrolled buildup and enlargement of lymphoid tissue can occur in various sites of the body such as the lymph nodes, spleen, bone marrow, and lungs. CLL is the most common type of leukemia in adults and very rarely occurs in children. In the majority of individuals, chronic lymphocytic leukemia is the result of a rapid production of B lymphocyte cells (a type of white blood cell that is responsible for the production of antibodies to help fight infection). What was previously called CLL derived from T lymphocytes has been renamed as another disorder, T cell prolymphocytic leukemia. The overgrowth of cells in this T-cell disease tends to be much faster. The ability to distinguish between cells that have unmutated IgVH (Ig-unmutated CLL) and mutated IgVH (Ig-mutated CLL) has become very important in predicting the course of the disease (prognosis). Patients who have Ig-unmutated CLL have a much shorter time to treatment and historically a shorter average survival period compared to Ig-mutated CLL patients, whose average survival period exceeded 25 years even before the advent of modern therapy. These survival times however are based on much older data and are certainly longer now, with improved therapies. The other major determinant of prognosis is the chromosome makeup of the CLL, with particular concern about two higher risk chromosome abnormalities, loss of the short arm of chromosome 17 or the long arm of chromosome 11Determining the subset of CLL based on IGVH status is important because it is very predictive of prognosis. Because CLL usually progresses so slowly, many patients do not need immediate treatment and some do not even require it in their lifetime. Treatment is still based primarily on symptoms or worsening blood counts, not on these prognostic factors. | 271 | Chronic Lymphocytic Leukemia |
nord_271_1 | Symptoms of Chronic Lymphocytic Leukemia | Approximately 50-75% of patients with chronic lymphocytic leukemia have no symptoms when first diagnosed. The disease is discovered during a routine exam or blood test. Symptoms can be similar between the two subdivisions of CLL, Ig-mutated and Ig-unmutated, although when Ig-unmutated CLL progresses, typically sooner, more symptoms may ensue.Symptoms of chronic lymphocytic leukemia may include fatigue, weight loss, loss of appetite (anorexia), labored breathing, low-grade fever, a feeling of fullness in the abdomen due to an enlarged spleen, and night sweats. Bacterial infections such as skin infections, fluid and inflammation of the lungs (pneumonia), and inflammation of the sinuses (sinusitis) often occur. As the disorder advances, the patient loses the ability to fight off infections. Viral infections become an increasing concern.In the later stages of the disorder, the liver, spleen, and lymph nodes may steadily increase in size. Chronic lymphocytic leukemia may also invade other tissues such as the skin, eye socket (orbit), mucous membrane that lines the inside of the eyelids (conjunctivae), lungs, sacs that line the chest (pleura), heart, and gastrointestinal tract. Swelling and a yellow pigment of the skin (jaundice) may also occur.The National Cancer Institute has published a six-step description of the staging of this disorder. The staging determines the treatment and management plan.Stage 0: An abundance of lymphocytes in blood but no other sign of leukemia; lymph nodes, spleen, liver, red blood cells and platelets are normal.Stage I: Too many lymphocytes; lymph nodes swollen; spleen and liver are normal as are erythrocytes and platelets.Stage II: Too many lymphocytes; lymph nodes, spleen and/or liver swollen.Stage III: Too many lymphocytes; too few red blood cells (anemia); lymph nodes swollen; spleen and/or liver may be swollen.Stage IV: Too many lymphocytes; too few platelets (difficult blood clotting); lymph nodes, spleen and liver may be swollen; too few red blood cells (anemia).Refractory: CLL does not respond to standard treatments. | Symptoms of Chronic Lymphocytic Leukemia. Approximately 50-75% of patients with chronic lymphocytic leukemia have no symptoms when first diagnosed. The disease is discovered during a routine exam or blood test. Symptoms can be similar between the two subdivisions of CLL, Ig-mutated and Ig-unmutated, although when Ig-unmutated CLL progresses, typically sooner, more symptoms may ensue.Symptoms of chronic lymphocytic leukemia may include fatigue, weight loss, loss of appetite (anorexia), labored breathing, low-grade fever, a feeling of fullness in the abdomen due to an enlarged spleen, and night sweats. Bacterial infections such as skin infections, fluid and inflammation of the lungs (pneumonia), and inflammation of the sinuses (sinusitis) often occur. As the disorder advances, the patient loses the ability to fight off infections. Viral infections become an increasing concern.In the later stages of the disorder, the liver, spleen, and lymph nodes may steadily increase in size. Chronic lymphocytic leukemia may also invade other tissues such as the skin, eye socket (orbit), mucous membrane that lines the inside of the eyelids (conjunctivae), lungs, sacs that line the chest (pleura), heart, and gastrointestinal tract. Swelling and a yellow pigment of the skin (jaundice) may also occur.The National Cancer Institute has published a six-step description of the staging of this disorder. The staging determines the treatment and management plan.Stage 0: An abundance of lymphocytes in blood but no other sign of leukemia; lymph nodes, spleen, liver, red blood cells and platelets are normal.Stage I: Too many lymphocytes; lymph nodes swollen; spleen and liver are normal as are erythrocytes and platelets.Stage II: Too many lymphocytes; lymph nodes, spleen and/or liver swollen.Stage III: Too many lymphocytes; too few red blood cells (anemia); lymph nodes swollen; spleen and/or liver may be swollen.Stage IV: Too many lymphocytes; too few platelets (difficult blood clotting); lymph nodes, spleen and liver may be swollen; too few red blood cells (anemia).Refractory: CLL does not respond to standard treatments. | 271 | Chronic Lymphocytic Leukemia |
nord_271_2 | Causes of Chronic Lymphocytic Leukemia | The exact cause of chronic lymphocytic leukemia is not known. Multiple genetic mutations occur in the DNA of blood-producing cells. These mutations cause the blood cells to produce abnormal lymphocytes, which are not effective at fighting infection.Usually, an abnormal chromosome is present in a patient with CLL. Most often this abnormality is a deletion, or the loss of part of a chromosome. The loss of part of chromosome 13 is the most common deletion, as well as chromosome 11 and 17 deletions. Sometimes there is an extra chromosome 12 (trisomy 12). Other rarer chromosome abnormalities have also been reported. Scientists know these abnormalities are important in the causation of CLL, but it’s not yet clear which genes are involved in the development of CLL. The common chromosomal abnormalities are important prognostically, however, with deletions of chromosomes 11 and 17 predicting rapid disease progression.First-degree relatives of someone who has been diagnosed with CLL, namely parents, siblings or children, have a 5-7 times greater chance of developing CLL. | Causes of Chronic Lymphocytic Leukemia. The exact cause of chronic lymphocytic leukemia is not known. Multiple genetic mutations occur in the DNA of blood-producing cells. These mutations cause the blood cells to produce abnormal lymphocytes, which are not effective at fighting infection.Usually, an abnormal chromosome is present in a patient with CLL. Most often this abnormality is a deletion, or the loss of part of a chromosome. The loss of part of chromosome 13 is the most common deletion, as well as chromosome 11 and 17 deletions. Sometimes there is an extra chromosome 12 (trisomy 12). Other rarer chromosome abnormalities have also been reported. Scientists know these abnormalities are important in the causation of CLL, but it’s not yet clear which genes are involved in the development of CLL. The common chromosomal abnormalities are important prognostically, however, with deletions of chromosomes 11 and 17 predicting rapid disease progression.First-degree relatives of someone who has been diagnosed with CLL, namely parents, siblings or children, have a 5-7 times greater chance of developing CLL. | 271 | Chronic Lymphocytic Leukemia |
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