id
stringlengths 8
11
| title
stringlengths 14
124
| content
stringlengths 0
34k
| contents
stringlengths 20
34k
| nordid
int64 0
1.32k
| rare-disease
stringlengths 4
103
|
|---|---|---|---|---|---|
nord_171_3 | Affects of Bohring-Opitz Syndrome | BOS is not thought to affect one population of individuals more than another, and does not show any higher prevalence in males or females. There are no areas of the world where BOS is thought to be more common due to founder mutations or inbreeding (consanguinity). The current prevalence is unknown; there have been approximately 50 individuals reported in the literature but there may be others who have either not had testing or who have not come to medical attention. | Affects of Bohring-Opitz Syndrome. BOS is not thought to affect one population of individuals more than another, and does not show any higher prevalence in males or females. There are no areas of the world where BOS is thought to be more common due to founder mutations or inbreeding (consanguinity). The current prevalence is unknown; there have been approximately 50 individuals reported in the literature but there may be others who have either not had testing or who have not come to medical attention. | 171 | Bohring-Opitz Syndrome |
nord_171_4 | Related disorders of Bohring-Opitz Syndrome | Bainbridge-Roper syndrome (BRS) – Bainbridge-Roper syndrome is a congenital and developmental disorder caused by mutations in the ASXL3 gene, similar to the gene that causes BOS. Individuals with BRS may have similarly delayed milestones and developmental differences, poor growth, feeding difficulties, low tone, and microcephaly. Individuals with BRS do not typically have the birthmarks seen in children with BOS or the posturing of the hands and elbows seen in BOS.Shashi-Pena syndrome (SPS)– Shashi-Pena syndrome is another rare, congenital anomaly syndrome caused by mutations in the ASXL2 gene, also related to the gene that causes BOS. Individuals may have hypotonia, feeding difficulties, and birthmarks similar to those seen in BOS. The degree of intellectual or developmental differences may be milder than that seen in BOS.C Syndrome (Opitz trigonencephaly syndrome) – Individuals with C syndrome may have similar abnormalities to their skull shape as seen in BOS children, including microcephaly, trigonencephaly, and similar facial features. They typically do not have the birthmarks seen in BOS, and BOS tends to be more severe overall in regards to organ-system related issues. | Related disorders of Bohring-Opitz Syndrome. Bainbridge-Roper syndrome (BRS) – Bainbridge-Roper syndrome is a congenital and developmental disorder caused by mutations in the ASXL3 gene, similar to the gene that causes BOS. Individuals with BRS may have similarly delayed milestones and developmental differences, poor growth, feeding difficulties, low tone, and microcephaly. Individuals with BRS do not typically have the birthmarks seen in children with BOS or the posturing of the hands and elbows seen in BOS.Shashi-Pena syndrome (SPS)– Shashi-Pena syndrome is another rare, congenital anomaly syndrome caused by mutations in the ASXL2 gene, also related to the gene that causes BOS. Individuals may have hypotonia, feeding difficulties, and birthmarks similar to those seen in BOS. The degree of intellectual or developmental differences may be milder than that seen in BOS.C Syndrome (Opitz trigonencephaly syndrome) – Individuals with C syndrome may have similar abnormalities to their skull shape as seen in BOS children, including microcephaly, trigonencephaly, and similar facial features. They typically do not have the birthmarks seen in BOS, and BOS tends to be more severe overall in regards to organ-system related issues. | 171 | Bohring-Opitz Syndrome |
nord_171_5 | Diagnosis of Bohring-Opitz Syndrome | The definitive diagnosis of BOS is made after molecular testing for mutations in the ASXL1 gene. Clinical suspicion for BOS may be raised if an individual displays the characteristic BOS posturing of the hands and elbows, is having delayed growth and developmental milestones, and has the characteristic facial features seen in BOS, including the presence of characteristic birthmarks. While the aforementioned characteristics are considered classic, individuals may present more variably, so BOS should not be entirely excluded necessarily on clinical presentation alone, unless obvious signs of another condition are present.Clinical Testing and Work-up
Children with BOS should receive regular abdominal ultrasounds every three months from birth (or at the time of diagnosis) until eight years to screen for Wilms tumor. They should also receive regular evaluations to focus on growth, feeding, nutrition, and management of other complications. | Diagnosis of Bohring-Opitz Syndrome. The definitive diagnosis of BOS is made after molecular testing for mutations in the ASXL1 gene. Clinical suspicion for BOS may be raised if an individual displays the characteristic BOS posturing of the hands and elbows, is having delayed growth and developmental milestones, and has the characteristic facial features seen in BOS, including the presence of characteristic birthmarks. While the aforementioned characteristics are considered classic, individuals may present more variably, so BOS should not be entirely excluded necessarily on clinical presentation alone, unless obvious signs of another condition are present.Clinical Testing and Work-up
Children with BOS should receive regular abdominal ultrasounds every three months from birth (or at the time of diagnosis) until eight years to screen for Wilms tumor. They should also receive regular evaluations to focus on growth, feeding, nutrition, and management of other complications. | 171 | Bohring-Opitz Syndrome |
nord_171_6 | Therapies of Bohring-Opitz Syndrome | Treatment
There are currently no definitive treatments, medications, or therapies that will reverse the symptoms of BOS as there are no proven treatments to change an individual’s mutation in the ASXL1 gene. While some work is being done in general with gene therapy and other advanced technologies (CRISPR/CAS9), there have been no studies on children with BOS. Treatment is currently geared toward symptomatic treatment for an individual’s specific medical issues. Most children will benefit from a combination of various therapies, including physical, occupational, and speech. They may also benefit from an augmented communication device and other devices to assist with mobility, including standers, gait trainers, adaptive strollers, etc. Children with feeding difficulties may benefit from G-tubes or GJ tubes; those who are at risk for recurrent aspiration and develop lung disease or who need supplemental oxygen may need a tracheostomy and/or ventilator support.Individuals who obtain common respiratory infections should be aggressively treated with the assistance of clearance of secretions and managed appropriately to reduce complications. All individuals with BOS, unless there is evidence of cellular immunodeficiency, should receive the standard schedule of childhood immunizations, including prophylaxis for RSV, if appropriate, and influenza. | Therapies of Bohring-Opitz Syndrome. Treatment
There are currently no definitive treatments, medications, or therapies that will reverse the symptoms of BOS as there are no proven treatments to change an individual’s mutation in the ASXL1 gene. While some work is being done in general with gene therapy and other advanced technologies (CRISPR/CAS9), there have been no studies on children with BOS. Treatment is currently geared toward symptomatic treatment for an individual’s specific medical issues. Most children will benefit from a combination of various therapies, including physical, occupational, and speech. They may also benefit from an augmented communication device and other devices to assist with mobility, including standers, gait trainers, adaptive strollers, etc. Children with feeding difficulties may benefit from G-tubes or GJ tubes; those who are at risk for recurrent aspiration and develop lung disease or who need supplemental oxygen may need a tracheostomy and/or ventilator support.Individuals who obtain common respiratory infections should be aggressively treated with the assistance of clearance of secretions and managed appropriately to reduce complications. All individuals with BOS, unless there is evidence of cellular immunodeficiency, should receive the standard schedule of childhood immunizations, including prophylaxis for RSV, if appropriate, and influenza. | 171 | Bohring-Opitz Syndrome |
nord_172_0 | Overview of Börjeson-Forssman-Lehman Syndrome | Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by intellectual disability, obesity, seizures, failure of the testes in males or the ovaries in females to produce hormones (hypogonadism), and distinctive facial features. Affected infants often experience delays in reaching developmental milestones. The exact symptoms vary from case to case, even among members of the same family. BFLS is caused by disruptions or changes (mutations) of the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males. Females who carry a single copy of the disease gene (heterozygous carriers) may develop some variable features of the disorder, however, in some instances they can have features similar to the affected males (i.e. be considered as affected with the syndrome). | Overview of Börjeson-Forssman-Lehman Syndrome. Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by intellectual disability, obesity, seizures, failure of the testes in males or the ovaries in females to produce hormones (hypogonadism), and distinctive facial features. Affected infants often experience delays in reaching developmental milestones. The exact symptoms vary from case to case, even among members of the same family. BFLS is caused by disruptions or changes (mutations) of the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males. Females who carry a single copy of the disease gene (heterozygous carriers) may develop some variable features of the disorder, however, in some instances they can have features similar to the affected males (i.e. be considered as affected with the syndrome). | 172 | Börjeson-Forssman-Lehman Syndrome |
nord_172_1 | Symptoms of Börjeson-Forssman-Lehman Syndrome | Börjeson-Forssman-Lehmann syndrome has been considered to be fully expressed only in males given the X-chromosome localization of the responsible gene (see below). However, there have been several reports of affected females with the syndrome. Generally, the symptoms of females vary dramatically, from no clinical presentations to fully affected status. The symptoms associated with BFLS are variable even in males and even in individuals of the same family.Most males affected by BFLS are characterized by mental retardation of varying severity. Affected infants may also have diminished muscle tone (hypotonia), a smaller head circumference than would be expected for an infant’s age and sex (microcephaly), and may experience feeding difficulties resulting in failure to thrive. As affected children age they may experience delays in reaching developmental milestones. Seizures may be present in some cases. Mild obesity is common in affected children even during infancy.Affected individuals may have distinctive facial features including large, fleshy earlobes, deep-set eyes, heavy ridges above the eyes (prominent supraorbital ridge), and thickened connective tissue of the face, giving the face a coarse appearance. In some cases, affected individuals may have droopy upper eyelids (ptosis), rapid, involuntary eye movements (nystagmus), and abnormalities of the thin membrane that lines the back of the eyes (retina) and the main nerve that sends electrical impulses from the retina to the brain (optic nerve). Vision problems such as farsightedness (hyperopia) and cataracts may develop before the age of 30.Individuals with BFLS may also have reduced function of the testes or ovaries (hypogonadism). The failure of the testes and ovaries to produces hormones may result in growth deficiencies resulting in short stature and delayed sexual development. In addition, affected males may have small genitalia and the testes may fail to descend into the scrotum (cryptorchidism). After puberty, some males may develop abnormally enlarged breasts (gynecomastia).Skeletal abnormalities may occur in some cases including abnormal side-to-side or front-to-back curvature of the spine (scoliosis or kyphosis), a narrow cervical spinal canal, or underdevelopment (hypoplasia) of certain bones of the fingers or toes resulting long, tapered fingers and abnormally short toes especially the fourth and fifth toes.As affected males age, the symptoms of the disorder may become milder and vary more between cases. Diabetes has occurred in some adults with BFLS.Females who carry the disease gene for BFLS were considered to be much less severely affected and develop only some symptoms of the disorder, generally a milder form of BFLS seen in the affected males. However, this assumption was based on females from larger families with primarily affected men. With the advent of new DNA sequencing technologies many singleton patients are tested and with those it has recently been revealed that de novo mutations (not present in the parents of the child) in PHF6 in singleton females result in a specific clinical phenotype, which might have been under-recognized so far. These female patients are affected with variable level of intellectual disability, characteristic facial features, underdeveloped nails, some dental anomalies, sparse hair and linear skin hyperpigmentation. A few females have been reported to develop epilepsy, which may be associated with signs of a generalized neuronal migration disorder resembling a subcortical band heterotopia on MRI. Interestingly while this female clinical phenotype shows overlap with BFLS, it also includes additional clinical features, thus adding a new facet to the disorder. These affected females (in particular when young) seem to resemble another genetic syndrome, Coffin-Siris syndrome. Their clinical presentations overlap, but are not identical, with typical BFLS phenotype only later in life, ie. in adolescence and adult life. | Symptoms of Börjeson-Forssman-Lehman Syndrome. Börjeson-Forssman-Lehmann syndrome has been considered to be fully expressed only in males given the X-chromosome localization of the responsible gene (see below). However, there have been several reports of affected females with the syndrome. Generally, the symptoms of females vary dramatically, from no clinical presentations to fully affected status. The symptoms associated with BFLS are variable even in males and even in individuals of the same family.Most males affected by BFLS are characterized by mental retardation of varying severity. Affected infants may also have diminished muscle tone (hypotonia), a smaller head circumference than would be expected for an infant’s age and sex (microcephaly), and may experience feeding difficulties resulting in failure to thrive. As affected children age they may experience delays in reaching developmental milestones. Seizures may be present in some cases. Mild obesity is common in affected children even during infancy.Affected individuals may have distinctive facial features including large, fleshy earlobes, deep-set eyes, heavy ridges above the eyes (prominent supraorbital ridge), and thickened connective tissue of the face, giving the face a coarse appearance. In some cases, affected individuals may have droopy upper eyelids (ptosis), rapid, involuntary eye movements (nystagmus), and abnormalities of the thin membrane that lines the back of the eyes (retina) and the main nerve that sends electrical impulses from the retina to the brain (optic nerve). Vision problems such as farsightedness (hyperopia) and cataracts may develop before the age of 30.Individuals with BFLS may also have reduced function of the testes or ovaries (hypogonadism). The failure of the testes and ovaries to produces hormones may result in growth deficiencies resulting in short stature and delayed sexual development. In addition, affected males may have small genitalia and the testes may fail to descend into the scrotum (cryptorchidism). After puberty, some males may develop abnormally enlarged breasts (gynecomastia).Skeletal abnormalities may occur in some cases including abnormal side-to-side or front-to-back curvature of the spine (scoliosis or kyphosis), a narrow cervical spinal canal, or underdevelopment (hypoplasia) of certain bones of the fingers or toes resulting long, tapered fingers and abnormally short toes especially the fourth and fifth toes.As affected males age, the symptoms of the disorder may become milder and vary more between cases. Diabetes has occurred in some adults with BFLS.Females who carry the disease gene for BFLS were considered to be much less severely affected and develop only some symptoms of the disorder, generally a milder form of BFLS seen in the affected males. However, this assumption was based on females from larger families with primarily affected men. With the advent of new DNA sequencing technologies many singleton patients are tested and with those it has recently been revealed that de novo mutations (not present in the parents of the child) in PHF6 in singleton females result in a specific clinical phenotype, which might have been under-recognized so far. These female patients are affected with variable level of intellectual disability, characteristic facial features, underdeveloped nails, some dental anomalies, sparse hair and linear skin hyperpigmentation. A few females have been reported to develop epilepsy, which may be associated with signs of a generalized neuronal migration disorder resembling a subcortical band heterotopia on MRI. Interestingly while this female clinical phenotype shows overlap with BFLS, it also includes additional clinical features, thus adding a new facet to the disorder. These affected females (in particular when young) seem to resemble another genetic syndrome, Coffin-Siris syndrome. Their clinical presentations overlap, but are not identical, with typical BFLS phenotype only later in life, ie. in adolescence and adult life. | 172 | Börjeson-Forssman-Lehman Syndrome |
nord_172_2 | Causes of Börjeson-Forssman-Lehman Syndrome | Börjeson-Forssman-Lehmann syndrome is caused by a mutation of the plant homeodomain finger protein 6 (PHF6) gene. This mutation is inherited as an X-linked recessive trait. The gene PHF6 contains instructions (encodes) for creating a specific type of protein. One of the functions of this protein is to prevent cancer at least in some blood cells (T-lymphocytes important in immunity), but the other functions are not that well understood. More recent findings suggest that PHF6 protein is important for movement (migration) and function of neurons in the brain.Mutations in the PHF6 gene have been found in the cancer cells of people who have T-cell acute lymphoblastic leukaemia (T-ALL) or acute myelogenous leukemia (AML). These people do not have BFLS because the mutations are just in the cancer cells (in some cells in their blood) and not in the whole body. These cancers are thought to have occurred because PHF6 is a tumor suppressor gene, in other words a gene that normally prevents the development of cancer. Mutation of PHF6 on its own is unlikely cause cancer, but it is ought to be considered as a risk factor. There has been at least one report of a male affected with both, BFLS and T-ALL. Overall, there have been more males than females diagnosed with T-ALL when a mutation in PHF6 is involved. While there might be a slightly increased risk of these forms of blood cancer to occur in people affected with BFLS (i.e. with germline PHF6 mutations), such risk is at the moment difficult to quantify. More studies are required to address the importance of the PHF6-cancer link for the BFLS patients.X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display disease symptoms because females have two X chromosomes and only one carries the defective gene. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a defective gene he will develop the disease. However, new research shows that female carriers can also be fully affected while having mutation in the PHF6 gene only on one of their X chromosomes. Why some carrier women of PHF6 gene mutations are not affected and others are is not yet clear. It can be speculated that the outcome (ie affected or not) can be due to the choice of the X chromosome in the cells of these female carriers to be active, the one with PHF6 mutation against the one with normal PHF6, which can drive the presentation of disease in these females. As females have two X chromosomes in each cell, one of them needs to be inactivated. In case the normal X chromosome is chosen for an unknown reason to be inactivated, the only active chromosome the females have is the one with the PHF6 mutation and as such they become affected. At the moment we cannot predict or control which of the two X chromosomes of such females will be active and which inactive. As such we cannot predict accurately the affected status of females with PHF6 mutation.Generally, 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. These numbers need to be interpreted with caution in view of the findings of affected carrier females with PHF6 mutations. This means that an unaffected carrier female can have an affected carrier female and not only affected males. What is the risk that a female with a PHF6 mutation will be affected cannot yet be precisely determined.If a male with an X-linked disorder is able to reproduce, he will pass the defective gene to all of 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 offspring. | Causes of Börjeson-Forssman-Lehman Syndrome. Börjeson-Forssman-Lehmann syndrome is caused by a mutation of the plant homeodomain finger protein 6 (PHF6) gene. This mutation is inherited as an X-linked recessive trait. The gene PHF6 contains instructions (encodes) for creating a specific type of protein. One of the functions of this protein is to prevent cancer at least in some blood cells (T-lymphocytes important in immunity), but the other functions are not that well understood. More recent findings suggest that PHF6 protein is important for movement (migration) and function of neurons in the brain.Mutations in the PHF6 gene have been found in the cancer cells of people who have T-cell acute lymphoblastic leukaemia (T-ALL) or acute myelogenous leukemia (AML). These people do not have BFLS because the mutations are just in the cancer cells (in some cells in their blood) and not in the whole body. These cancers are thought to have occurred because PHF6 is a tumor suppressor gene, in other words a gene that normally prevents the development of cancer. Mutation of PHF6 on its own is unlikely cause cancer, but it is ought to be considered as a risk factor. There has been at least one report of a male affected with both, BFLS and T-ALL. Overall, there have been more males than females diagnosed with T-ALL when a mutation in PHF6 is involved. While there might be a slightly increased risk of these forms of blood cancer to occur in people affected with BFLS (i.e. with germline PHF6 mutations), such risk is at the moment difficult to quantify. More studies are required to address the importance of the PHF6-cancer link for the BFLS patients.X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display disease symptoms because females have two X chromosomes and only one carries the defective gene. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a defective gene he will develop the disease. However, new research shows that female carriers can also be fully affected while having mutation in the PHF6 gene only on one of their X chromosomes. Why some carrier women of PHF6 gene mutations are not affected and others are is not yet clear. It can be speculated that the outcome (ie affected or not) can be due to the choice of the X chromosome in the cells of these female carriers to be active, the one with PHF6 mutation against the one with normal PHF6, which can drive the presentation of disease in these females. As females have two X chromosomes in each cell, one of them needs to be inactivated. In case the normal X chromosome is chosen for an unknown reason to be inactivated, the only active chromosome the females have is the one with the PHF6 mutation and as such they become affected. At the moment we cannot predict or control which of the two X chromosomes of such females will be active and which inactive. As such we cannot predict accurately the affected status of females with PHF6 mutation.Generally, 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. These numbers need to be interpreted with caution in view of the findings of affected carrier females with PHF6 mutations. This means that an unaffected carrier female can have an affected carrier female and not only affected males. What is the risk that a female with a PHF6 mutation will be affected cannot yet be precisely determined.If a male with an X-linked disorder is able to reproduce, he will pass the defective gene to all of 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 offspring. | 172 | Börjeson-Forssman-Lehman Syndrome |
nord_172_3 | Affects of Börjeson-Forssman-Lehman Syndrome | Börjeson-Forssman-Lehmann syndrome is a rare disorder that can be fully expressed in males as well as in females. The phenotypic expression in females is highly variable and cannot yet be predicted. BFLS was originally described in the medical literature in 1962 in three related males as well as three of their more mildly affected female relatives. The exact incidence of BFLS is unknown, but with the identification of singleton affected females we assume it is underascertained. Approximately 40 unrelated families and various isolated cases (males and a growing number of females) have been reported in the medical literature with mutations in the PHF6 gene. However, it is plausible to speculate that the real number of individuals with PHF6 mutation is higher as many, even diagnosed cases are not reported and thus not captured. | Affects of Börjeson-Forssman-Lehman Syndrome. Börjeson-Forssman-Lehmann syndrome is a rare disorder that can be fully expressed in males as well as in females. The phenotypic expression in females is highly variable and cannot yet be predicted. BFLS was originally described in the medical literature in 1962 in three related males as well as three of their more mildly affected female relatives. The exact incidence of BFLS is unknown, but with the identification of singleton affected females we assume it is underascertained. Approximately 40 unrelated families and various isolated cases (males and a growing number of females) have been reported in the medical literature with mutations in the PHF6 gene. However, it is plausible to speculate that the real number of individuals with PHF6 mutation is higher as many, even diagnosed cases are not reported and thus not captured. | 172 | Börjeson-Forssman-Lehman Syndrome |
nord_172_4 | Related disorders of Börjeson-Forssman-Lehman Syndrome | Symptoms of the following disorders can be similar to those of Börjeson-Forssman-Lehmann syndrome. Comparisons may be useful for a differential diagnosis.Coffin-Siris syndrome is characterized by sparse hair, bitemporal narrowing, arched eyebrows, synophrys, high nasal root, bulbous nasal tip, marked clinodactyly with the hypoplastic terminal phalanges of the fifth fingers and cutaneous syndactyly of the toes, Blaschkoid linear skin hyperpigmentation, dental anomalies and occasional major malformations. Coffin-Siris syndrome is usually caused by mutations in the SWI/SNF complex components including SMARCA4, SMARCB1 and ARID1B.Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and/or unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone (sternum) (pectus carinatum). Coffin-Lowry syndrome is caused by mutations in the RPS6KA3 (RSK2)gene and is inherited as an X-linked dominant trait. Males are usually more severely affected than females. (For more information on this disorder, choose “Coffin Lowy syndrome” as your search term in the Rare Disease Database.)Bardet-Biedl syndrome is a rare genetic disorder characterized by intellectual disability, obesity, delayed sexual development or underdeveloped reproductive organs, progressive pigmentary degeneration of the retinas of the eyes, kidney abnormalities in structure or function, and/or abnormal or extra fingers and/or toes (polydactyly). A primary feature of Bardet-Biedl syndrome is progressive pigmentary degenerative changes of the retina (retinal dystrophy), similar to retinitis pigmentosa. Additional visual abnormalities may include night blindness; loss of side (peripheral) vision (tunnel vision); nearsightedness (myopia); abnormal alignment of one eye in relation to the other (strabismus); abnormal, involuntary, rapid eye movements (nystagmus). Bardet-Biedl syndrome is inherited as an autosomal recessive trait. Many genes have been identified to cause Bardet-Biedl syndrome. (For more information on this disorder, choose “Bardet-Biedl” as your search term in the Rare Disease Database.)Prader-Willi syndrome is a genetic disorder characterized in infancy by diminished muscle tone (hypotonia), feeding difficulties, and failure to grow and gain weight (failure to thrive). In childhood, features of the disorder include short stature, genital abnormalities and an excessive appetite. Progressive obesity results because of a lack of feeling satisfied after completing a meal (satiety) that leads to overeating. Without appropriate treatment, individuals with severe progressive obesity may have an increased risk of cardiac insufficiency, diabetes or other serious conditions that may lead to potentially life-threatening complications. All individuals with Prader-Willi syndrome have some cognitive impairment that ranges from borderline normal with learning disabilities to mild mental retardation. Behavior problems are common and can include temper tantrums, obsessive/compulsive behavior, and skin picking. Prader-Willi syndrome occurs when the genes in a specific region of chromosome 15 do not function. The abnormal genes usually result from random errors in development, but are sometimes inherited. (For more information on this disorder, choose “Prader-Willi” as your search term in the Rare Disease Database.)Wilson-Turner syndrome (WTS) is a rare genetic disorder characterized by X-linked inheritance of mild to moderate intellectual disability, obesity, gynaecomastia (breast development in males), tapered fingers, small feet, and mood swings. The differences from BFLS include: a lack of a distinctive facial appearance, normal growth, normal (or small) genitals. In infancy there is global developmental delay with speech more severely involved, low tone and excessive drooling. Males with WTS are said to be quiet with a cheerful temperament, although some males have been easily upset, tearful or aggressive. Stuttering is common. Mild disturbances of the male hormones (androgens) have been reported, similar to BFLS. WTS is caused by mutations in the LAS1L gene and a WTS like phenotype has been reported to be due to a mutation in HDAC8.Chudley-Lowry syndrome (CLS) is a genetic disorder characterized by X-linked inheritance of moderate to severe intellectual disability, obesity, low tone and genital underdevelopment. There is a distinctive facial appearance which is different to BFLS with almond shaped eyes, depressed nasal bridge, large open mouth with arched upper lip, short philtrum, and high palate. There can be shortening and tapering of the fingers. Testes are small or not fully descended but the male hormones (androgens) are normal. Growth is below average for height and head circumference but weight is above average. In early childhood there is global developmental delay. Short attention span and hyperactivity has been reported. CLS is caused by mutations in the ATR-X gene. | Related disorders of Börjeson-Forssman-Lehman Syndrome. Symptoms of the following disorders can be similar to those of Börjeson-Forssman-Lehmann syndrome. Comparisons may be useful for a differential diagnosis.Coffin-Siris syndrome is characterized by sparse hair, bitemporal narrowing, arched eyebrows, synophrys, high nasal root, bulbous nasal tip, marked clinodactyly with the hypoplastic terminal phalanges of the fifth fingers and cutaneous syndactyly of the toes, Blaschkoid linear skin hyperpigmentation, dental anomalies and occasional major malformations. Coffin-Siris syndrome is usually caused by mutations in the SWI/SNF complex components including SMARCA4, SMARCB1 and ARID1B.Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and/or unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone (sternum) (pectus carinatum). Coffin-Lowry syndrome is caused by mutations in the RPS6KA3 (RSK2)gene and is inherited as an X-linked dominant trait. Males are usually more severely affected than females. (For more information on this disorder, choose “Coffin Lowy syndrome” as your search term in the Rare Disease Database.)Bardet-Biedl syndrome is a rare genetic disorder characterized by intellectual disability, obesity, delayed sexual development or underdeveloped reproductive organs, progressive pigmentary degeneration of the retinas of the eyes, kidney abnormalities in structure or function, and/or abnormal or extra fingers and/or toes (polydactyly). A primary feature of Bardet-Biedl syndrome is progressive pigmentary degenerative changes of the retina (retinal dystrophy), similar to retinitis pigmentosa. Additional visual abnormalities may include night blindness; loss of side (peripheral) vision (tunnel vision); nearsightedness (myopia); abnormal alignment of one eye in relation to the other (strabismus); abnormal, involuntary, rapid eye movements (nystagmus). Bardet-Biedl syndrome is inherited as an autosomal recessive trait. Many genes have been identified to cause Bardet-Biedl syndrome. (For more information on this disorder, choose “Bardet-Biedl” as your search term in the Rare Disease Database.)Prader-Willi syndrome is a genetic disorder characterized in infancy by diminished muscle tone (hypotonia), feeding difficulties, and failure to grow and gain weight (failure to thrive). In childhood, features of the disorder include short stature, genital abnormalities and an excessive appetite. Progressive obesity results because of a lack of feeling satisfied after completing a meal (satiety) that leads to overeating. Without appropriate treatment, individuals with severe progressive obesity may have an increased risk of cardiac insufficiency, diabetes or other serious conditions that may lead to potentially life-threatening complications. All individuals with Prader-Willi syndrome have some cognitive impairment that ranges from borderline normal with learning disabilities to mild mental retardation. Behavior problems are common and can include temper tantrums, obsessive/compulsive behavior, and skin picking. Prader-Willi syndrome occurs when the genes in a specific region of chromosome 15 do not function. The abnormal genes usually result from random errors in development, but are sometimes inherited. (For more information on this disorder, choose “Prader-Willi” as your search term in the Rare Disease Database.)Wilson-Turner syndrome (WTS) is a rare genetic disorder characterized by X-linked inheritance of mild to moderate intellectual disability, obesity, gynaecomastia (breast development in males), tapered fingers, small feet, and mood swings. The differences from BFLS include: a lack of a distinctive facial appearance, normal growth, normal (or small) genitals. In infancy there is global developmental delay with speech more severely involved, low tone and excessive drooling. Males with WTS are said to be quiet with a cheerful temperament, although some males have been easily upset, tearful or aggressive. Stuttering is common. Mild disturbances of the male hormones (androgens) have been reported, similar to BFLS. WTS is caused by mutations in the LAS1L gene and a WTS like phenotype has been reported to be due to a mutation in HDAC8.Chudley-Lowry syndrome (CLS) is a genetic disorder characterized by X-linked inheritance of moderate to severe intellectual disability, obesity, low tone and genital underdevelopment. There is a distinctive facial appearance which is different to BFLS with almond shaped eyes, depressed nasal bridge, large open mouth with arched upper lip, short philtrum, and high palate. There can be shortening and tapering of the fingers. Testes are small or not fully descended but the male hormones (androgens) are normal. Growth is below average for height and head circumference but weight is above average. In early childhood there is global developmental delay. Short attention span and hyperactivity has been reported. CLS is caused by mutations in the ATR-X gene. | 172 | Börjeson-Forssman-Lehman Syndrome |
nord_172_5 | Diagnosis of Börjeson-Forssman-Lehman Syndrome | A diagnosis of Börjeson-Forssman-Lehmann syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic features. X-rays of the skeletal (skeletal radiography) may be used to detect the presence and assess the severity of potential skeletal defects and support a diagnosis of BFLS. Molecular genetic testing for mutations in the PHF6 gene is available to confirm the diagnosis. | Diagnosis of Börjeson-Forssman-Lehman Syndrome. A diagnosis of Börjeson-Forssman-Lehmann syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic features. X-rays of the skeletal (skeletal radiography) may be used to detect the presence and assess the severity of potential skeletal defects and support a diagnosis of BFLS. Molecular genetic testing for mutations in the PHF6 gene is available to confirm the diagnosis. | 172 | Börjeson-Forssman-Lehman Syndrome |
nord_172_6 | Therapies of Börjeson-Forssman-Lehman Syndrome | Treatment
The treatment of BFLS is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, eye specialists (ophthalmologists), and specialists in treating skeletal disorders (orthopedists), and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment.Early developmental intervention is important in ensuring that affected children with BFLS reach their potential. Special services that may be beneficial to affected children may include special remedial education and other medical, social, and/or vocational services. Genetic counseling may be of benefit for affected individuals and their families. | Therapies of Börjeson-Forssman-Lehman Syndrome. Treatment
The treatment of BFLS is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, eye specialists (ophthalmologists), and specialists in treating skeletal disorders (orthopedists), and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment.Early developmental intervention is important in ensuring that affected children with BFLS reach their potential. Special services that may be beneficial to affected children may include special remedial education and other medical, social, and/or vocational services. Genetic counseling may be of benefit for affected individuals and their families. | 172 | Börjeson-Forssman-Lehman Syndrome |
nord_173_0 | Overview of Bosma Arhinia Microphthalmia Syndrome | SummaryBosma arhinia microphthalmia (BAM) syndrome is an extremely rare genetic disorder that has been reported in fewer than 100 patients worldwide in the past century. It is defined by three major features: 1) complete absence of the nose, 2) eye defects, and 3) absent sexual maturation. The specific symptoms and severity of the disorder can vary from one person to another. For example, eye problems can range from absent tear ducts (the small tubes that carry tears from the eyes to the nose) to very small eyes with blindness. Boys with BAM syndrome may be born with underdeveloped genitals (small penis and/or testes that have not descended properly into the scrotum). If a girl with BAM syndrome has problems with her reproductive system, it will only become apparent in her teenage years when she does not develop breasts or have menstrual periods. The nose and eye problems typically require surgery, and the reproductive problems can be treated with hormones (testosterone or estrogen replacement). Despite the severe facial problems, patients typically have normal to above average intelligence and live happy, productive lives. The only known genetic cause of BAM syndrome is a change in the gene SMCHD1. In the majority of cases, this change occurs spontaneously in the egg or sperm cell and is not inherited from the parents.IntroductionThe complete absence of the nose from birth (congenital arhinia) was first described in the French literature in the 1800’s. A handful of additional patients with congenital arhinia, some with and some without eye defects, were reported in the early to mid-1900’s. Dr. James Bosma, a pediatrician and researcher at the National Institute of Dental Health, however, was the first to observe that these patients frequently had genital and reproductive hormone problems. In his 1981 report, he described two unrelated males (who were first reported by plastic surgeon Dr. George Gifford et al., (1972) with congenital arhinia, eye defects, and genital defects (small penis and undescended testes at birth, with no spontaneous sexual maturation). Nearly every patient with congenital arhinia has been the first and only one affected in his or her family. However, there have been several reports of multiple patients within the same family, the first by Klaus Ruprecht and Frank Majewski (1978) describing two German sisters with congenital arhinia and eye defects. Several terms have been used in the past for this syndrome to acknowledge the work of Drs. Gifford, Bosma, Ruprecht, and Majewski. | Overview of Bosma Arhinia Microphthalmia Syndrome. SummaryBosma arhinia microphthalmia (BAM) syndrome is an extremely rare genetic disorder that has been reported in fewer than 100 patients worldwide in the past century. It is defined by three major features: 1) complete absence of the nose, 2) eye defects, and 3) absent sexual maturation. The specific symptoms and severity of the disorder can vary from one person to another. For example, eye problems can range from absent tear ducts (the small tubes that carry tears from the eyes to the nose) to very small eyes with blindness. Boys with BAM syndrome may be born with underdeveloped genitals (small penis and/or testes that have not descended properly into the scrotum). If a girl with BAM syndrome has problems with her reproductive system, it will only become apparent in her teenage years when she does not develop breasts or have menstrual periods. The nose and eye problems typically require surgery, and the reproductive problems can be treated with hormones (testosterone or estrogen replacement). Despite the severe facial problems, patients typically have normal to above average intelligence and live happy, productive lives. The only known genetic cause of BAM syndrome is a change in the gene SMCHD1. In the majority of cases, this change occurs spontaneously in the egg or sperm cell and is not inherited from the parents.IntroductionThe complete absence of the nose from birth (congenital arhinia) was first described in the French literature in the 1800’s. A handful of additional patients with congenital arhinia, some with and some without eye defects, were reported in the early to mid-1900’s. Dr. James Bosma, a pediatrician and researcher at the National Institute of Dental Health, however, was the first to observe that these patients frequently had genital and reproductive hormone problems. In his 1981 report, he described two unrelated males (who were first reported by plastic surgeon Dr. George Gifford et al., (1972) with congenital arhinia, eye defects, and genital defects (small penis and undescended testes at birth, with no spontaneous sexual maturation). Nearly every patient with congenital arhinia has been the first and only one affected in his or her family. However, there have been several reports of multiple patients within the same family, the first by Klaus Ruprecht and Frank Majewski (1978) describing two German sisters with congenital arhinia and eye defects. Several terms have been used in the past for this syndrome to acknowledge the work of Drs. Gifford, Bosma, Ruprecht, and Majewski. | 173 | Bosma Arhinia Microphthalmia Syndrome |
nord_173_1 | Symptoms of Bosma Arhinia Microphthalmia Syndrome | Although researchers have been able to delineate a recognizable syndrome with characteristic or “core” symptoms, much about this disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and other factors have prevented physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below, or may have symptoms that are not discussed. Every case is unique and the disorder can be different in one child when compared to another. Parents should talk to their child’s physicians and medical team about their specific case, associated symptoms and overall prognosis.Children with BAM syndrome are born with a very small (hypoplastic) nose or no nose at all. They cannot smell because they are also missing the internal parts of the smell (olfactory) system, but they may be able to detect very strong, irritating odors. Babies who are born without a nose often have trouble breathing because it takes some time for them to learn how to breathe through their mouth, and how to breathe and eat at the same time. Some, but not all, babies need oxygen and a breathing tube (oral airway or tracheostomy), at least temporarily. If the back part of the nasal airway is narrow or blocked (choanal atresia), this may also cause breathing problems, which can be corrected with surgery. Babies who aren’t growing well may need a feeding tube (gastrostomy or G-tube). Plastic surgeons can help to build an external nose.Children with BAM syndrome may have problems with vision and their eyes. This includes missing eyes (anophthalmia), abnormally small eyes (microphthalmia), coloboma, cataracts, and absent or narrow tear ducts. In a study of nearly 40 patients with BAM syndrome, 77% of patients had anophthalmia or microphthalmia, 79% had coloboma, 53% had cataracts, and nearly all had missing or narrow tear ducts. Six patients had no vision problems. There can be loss of vision with age.• A coloboma is a cleft in or failure to close the eyeball during fetal development. This can result in a keyhole-shaped pupil (iris coloboma) and/or abnormalities in the retina, macula or optic nerve. Coloboma of the retina or optic nerve may cause vision loss, including blind spots, problems with depth perception or legal blindness. Many children with coloboma are sensitive to bright light. They may experience retinal detachment over time.• A cataract is a clouding of the lens of the eye (which is normally clear) at birth. Cataracts can cause poor vision but eye doctors can do surgery to fix them.• Tear ducts normally drain tears from the eyes to the nose. If tear ducts are absent, patients may have excessive tearing. If tear ducts are narrow, bacteria may collect in them, causing infections. Tear ducts can be opened up with surgery.Other common facial problems include cleft lip or cleft palate, abnormal external ears (too large or too small), and crowded or missing teeth.It is very common for affected children to have genital abnormalities and/or an inability to make sex hormones. This is most likely because a part of the brain, called the hypothalamus, does not make the hormone GnRH (gonadotropin-releasing hormone). This hormone is required for the reproductive system to develop and function normally. Most boys have a small penis and undescended testes (cryptorchidism). Most boys and girls require hormone therapy to go through puberty. A pediatric endocrinologist can help with this treatment. | Symptoms of Bosma Arhinia Microphthalmia Syndrome. Although researchers have been able to delineate a recognizable syndrome with characteristic or “core” symptoms, much about this disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and other factors have prevented physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below, or may have symptoms that are not discussed. Every case is unique and the disorder can be different in one child when compared to another. Parents should talk to their child’s physicians and medical team about their specific case, associated symptoms and overall prognosis.Children with BAM syndrome are born with a very small (hypoplastic) nose or no nose at all. They cannot smell because they are also missing the internal parts of the smell (olfactory) system, but they may be able to detect very strong, irritating odors. Babies who are born without a nose often have trouble breathing because it takes some time for them to learn how to breathe through their mouth, and how to breathe and eat at the same time. Some, but not all, babies need oxygen and a breathing tube (oral airway or tracheostomy), at least temporarily. If the back part of the nasal airway is narrow or blocked (choanal atresia), this may also cause breathing problems, which can be corrected with surgery. Babies who aren’t growing well may need a feeding tube (gastrostomy or G-tube). Plastic surgeons can help to build an external nose.Children with BAM syndrome may have problems with vision and their eyes. This includes missing eyes (anophthalmia), abnormally small eyes (microphthalmia), coloboma, cataracts, and absent or narrow tear ducts. In a study of nearly 40 patients with BAM syndrome, 77% of patients had anophthalmia or microphthalmia, 79% had coloboma, 53% had cataracts, and nearly all had missing or narrow tear ducts. Six patients had no vision problems. There can be loss of vision with age.• A coloboma is a cleft in or failure to close the eyeball during fetal development. This can result in a keyhole-shaped pupil (iris coloboma) and/or abnormalities in the retina, macula or optic nerve. Coloboma of the retina or optic nerve may cause vision loss, including blind spots, problems with depth perception or legal blindness. Many children with coloboma are sensitive to bright light. They may experience retinal detachment over time.• A cataract is a clouding of the lens of the eye (which is normally clear) at birth. Cataracts can cause poor vision but eye doctors can do surgery to fix them.• Tear ducts normally drain tears from the eyes to the nose. If tear ducts are absent, patients may have excessive tearing. If tear ducts are narrow, bacteria may collect in them, causing infections. Tear ducts can be opened up with surgery.Other common facial problems include cleft lip or cleft palate, abnormal external ears (too large or too small), and crowded or missing teeth.It is very common for affected children to have genital abnormalities and/or an inability to make sex hormones. This is most likely because a part of the brain, called the hypothalamus, does not make the hormone GnRH (gonadotropin-releasing hormone). This hormone is required for the reproductive system to develop and function normally. Most boys have a small penis and undescended testes (cryptorchidism). Most boys and girls require hormone therapy to go through puberty. A pediatric endocrinologist can help with this treatment. | 173 | Bosma Arhinia Microphthalmia Syndrome |
nord_173_2 | Causes of Bosma Arhinia Microphthalmia Syndrome | In 2017, two independent teams of researchers discovered that the gene that is altered in most patients with BAM syndrome is the SMCHD1 gene. BAM syndrome is usually caused by a spontaneous (de novo) change in SMCHD1 that occurs in the egg or sperm cell. In such situations, it is not inherited from the parents. Rarely, the abnormal gene can be inherited as an autosomal dominant trait.Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.Researchers believe that having a change in SMCHD1 is necessary but not sufficient to develop BAM syndrome. This is because there are families, for example, where a child with BAM inherited a change in SMCHD1 from his mother who has a very mild form of BAM (for example, no sense of smell but no other defects) or has no medical problems at all. This suggests that the child has a change in a second critical gene, which may have occurred spontaneously or may have been inherited from the other parent, in this example, the father. This type of inheritance, called digenic inheritance, occurs when a change in more than one gene is required to cause disease. Researchers are still trying to identify these other genes.The SMCHD1 protein is a gene repressor. This means it has the ability to turn other genes off. It is possible that the changes that occur in SMCHD1 in patients with BAM syndrome cause other genes that are important for developing a normal nose and eyes to be turned off at the wrong time. However, more research is needed to understand how changes in SMCHD1 activity cause BAM syndrome.Several of the same changes in SMCHD1 that cause BAM have also been shown to cause a rare form of muscular dystrophy, called facioscapulohumeral muscular dystrophy type 2 (FSHD2; see NORD database). FSHD2 patients have not been reported to have any nose, eye, or reproductive problems, and researchers are still trying to understand if some BAM patients will develop signs of FSHD2 as adults, since FSHD2 is an adult-onset condition, with an average age of onset of 26 years.There are no known environmental exposures during pregnancy that cause BAM. However, studies in animals have suggested that high blood sugar, alcohol, and retinoic acid may cause holoprosencephaly, a severe congenital disorder whose features may overlap with those of BAM (e.g., absent nose, anophthalmia or microphthalmia, cleft lip or cleft palate, hormone problems). | Causes of Bosma Arhinia Microphthalmia Syndrome. In 2017, two independent teams of researchers discovered that the gene that is altered in most patients with BAM syndrome is the SMCHD1 gene. BAM syndrome is usually caused by a spontaneous (de novo) change in SMCHD1 that occurs in the egg or sperm cell. In such situations, it is not inherited from the parents. Rarely, the abnormal gene can be inherited as an autosomal dominant trait.Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.Researchers believe that having a change in SMCHD1 is necessary but not sufficient to develop BAM syndrome. This is because there are families, for example, where a child with BAM inherited a change in SMCHD1 from his mother who has a very mild form of BAM (for example, no sense of smell but no other defects) or has no medical problems at all. This suggests that the child has a change in a second critical gene, which may have occurred spontaneously or may have been inherited from the other parent, in this example, the father. This type of inheritance, called digenic inheritance, occurs when a change in more than one gene is required to cause disease. Researchers are still trying to identify these other genes.The SMCHD1 protein is a gene repressor. This means it has the ability to turn other genes off. It is possible that the changes that occur in SMCHD1 in patients with BAM syndrome cause other genes that are important for developing a normal nose and eyes to be turned off at the wrong time. However, more research is needed to understand how changes in SMCHD1 activity cause BAM syndrome.Several of the same changes in SMCHD1 that cause BAM have also been shown to cause a rare form of muscular dystrophy, called facioscapulohumeral muscular dystrophy type 2 (FSHD2; see NORD database). FSHD2 patients have not been reported to have any nose, eye, or reproductive problems, and researchers are still trying to understand if some BAM patients will develop signs of FSHD2 as adults, since FSHD2 is an adult-onset condition, with an average age of onset of 26 years.There are no known environmental exposures during pregnancy that cause BAM. However, studies in animals have suggested that high blood sugar, alcohol, and retinoic acid may cause holoprosencephaly, a severe congenital disorder whose features may overlap with those of BAM (e.g., absent nose, anophthalmia or microphthalmia, cleft lip or cleft palate, hormone problems). | 173 | Bosma Arhinia Microphthalmia Syndrome |
nord_173_3 | Affects of Bosma Arhinia Microphthalmia Syndrome | BAM syndrome is an extremely rare disorder that is known to affect patients from many different ethnic groups. As with many rare disorders, the exact incidence or prevalence of this disorder is unknown. The disorder probably goes misdiagnosed or undiagnosed making it difficult to determine the true frequency in the general population. Fewer than 100 people with this disorder have been reported in the medical literature. | Affects of Bosma Arhinia Microphthalmia Syndrome. BAM syndrome is an extremely rare disorder that is known to affect patients from many different ethnic groups. As with many rare disorders, the exact incidence or prevalence of this disorder is unknown. The disorder probably goes misdiagnosed or undiagnosed making it difficult to determine the true frequency in the general population. Fewer than 100 people with this disorder have been reported in the medical literature. | 173 | Bosma Arhinia Microphthalmia Syndrome |
nord_173_4 | Related disorders of Bosma Arhinia Microphthalmia Syndrome | Symptoms of the following disorders can be similar to those of BAM syndrome. For more information on each of these disorders, enter the disease name as your search term in the Rare Disease Database.Kallmann syndrome
frontonasal dysplasia
craniofrontonasal dysplasia
frontofacionasal dysplasia
holoprosencephaly
Treacher Collins syndrome | Related disorders of Bosma Arhinia Microphthalmia Syndrome. Symptoms of the following disorders can be similar to those of BAM syndrome. For more information on each of these disorders, enter the disease name as your search term in the Rare Disease Database.Kallmann syndrome
frontonasal dysplasia
craniofrontonasal dysplasia
frontofacionasal dysplasia
holoprosencephaly
Treacher Collins syndrome | 173 | Bosma Arhinia Microphthalmia Syndrome |
nord_173_5 | Diagnosis of Bosma Arhinia Microphthalmia Syndrome | Arhinia is apparent at birth and can sometimes be suspected prenatally. A medical geneticist, pediatrician, or other pediatric subspecialist should do a complete physical exam and order tests to look for the two other major features of BAM, eye defects and genital/hormone defects. Molecular genetic testing for changes in the SMCHD1 gene that are associated with BAM is available at specialized laboratories. | Diagnosis of Bosma Arhinia Microphthalmia Syndrome. Arhinia is apparent at birth and can sometimes be suspected prenatally. A medical geneticist, pediatrician, or other pediatric subspecialist should do a complete physical exam and order tests to look for the two other major features of BAM, eye defects and genital/hormone defects. Molecular genetic testing for changes in the SMCHD1 gene that are associated with BAM is available at specialized laboratories. | 173 | Bosma Arhinia Microphthalmia Syndrome |
nord_173_6 | Therapies of Bosma Arhinia Microphthalmia Syndrome | Treatment
Although children with BAM may require intensive medical support early in life because of difficulty breathing and feeding, they usually become healthy and productive citizens with normal life spans. Many of the structural abnormalities (choanal atresia, cleft palate, etc.) can be surgically corrected and new technologies are allowing surgeons to create much more cosmetically appealing nasal prostheses for these children. Two groups have published papers on a custom-made nasal implant made with a 3D printer. Most patients will require ongoing medical care from a team of medical and surgical sub-specialists, including plastic or maxillofacial surgeons, ophthalmologists (eye doctors), and endocrinologists (hormone doctors). Psychosocial support for the entire family is essential as well. Genetic counseling may be of benefit for affected individuals and their families. Due to the rarity of BAM, there are no standardized treatment protocols or guidelines for affected individuals. | Therapies of Bosma Arhinia Microphthalmia Syndrome. Treatment
Although children with BAM may require intensive medical support early in life because of difficulty breathing and feeding, they usually become healthy and productive citizens with normal life spans. Many of the structural abnormalities (choanal atresia, cleft palate, etc.) can be surgically corrected and new technologies are allowing surgeons to create much more cosmetically appealing nasal prostheses for these children. Two groups have published papers on a custom-made nasal implant made with a 3D printer. Most patients will require ongoing medical care from a team of medical and surgical sub-specialists, including plastic or maxillofacial surgeons, ophthalmologists (eye doctors), and endocrinologists (hormone doctors). Psychosocial support for the entire family is essential as well. Genetic counseling may be of benefit for affected individuals and their families. Due to the rarity of BAM, there are no standardized treatment protocols or guidelines for affected individuals. | 173 | Bosma Arhinia Microphthalmia Syndrome |
nord_174_0 | Overview of Botulism | Botulism is a rare but serious paralytic illness caused by a toxin usually produced by the bacterium Clostridium botulinum. There are four generally recognized naturally occurring types; foodborne, wound, infant, and, rarely, adult intestinal colonization. Iatrogenic and inhalational botulism may also occur. Foodborne botulism is caused by eating foods that contain botulinum toxin. Wound botulism occurs when C. botulinum spores germinate and produce toxin in a contaminated wound or abscess. The most common form of botulism in the United States, infant botulism, is caused when ingested C. botulinum spores colonize and subsequently produce toxin in the intestines of affected infants. In rare instances, C. botulinum intestinal colonization and toxin production have also occurred among adults with anatomical or functional bowel abnormalities. Additionally, iatrogenic botulism has infrequently occurred after intramuscular injection of botulinum toxin for treatment of certain dystonias and other disorders. Finally, inhalational botulism, though not naturally occurring, was reported among three German laboratory workers who inadvertently inhaled aerosolized toxin and could potentially occur after a deliberate aerosolization of toxin in a bioterrorism event. Any case of foodborne or unexplained botulism is considered to be a public health emergency because of the potential for toxin-containing foods to injure others who eat them and because of the potential misuse of botulinum toxin as a biological weapon. State and local public health officials by law must be informed immediately whenever botulism is suspected in a human patient. | Overview of Botulism. Botulism is a rare but serious paralytic illness caused by a toxin usually produced by the bacterium Clostridium botulinum. There are four generally recognized naturally occurring types; foodborne, wound, infant, and, rarely, adult intestinal colonization. Iatrogenic and inhalational botulism may also occur. Foodborne botulism is caused by eating foods that contain botulinum toxin. Wound botulism occurs when C. botulinum spores germinate and produce toxin in a contaminated wound or abscess. The most common form of botulism in the United States, infant botulism, is caused when ingested C. botulinum spores colonize and subsequently produce toxin in the intestines of affected infants. In rare instances, C. botulinum intestinal colonization and toxin production have also occurred among adults with anatomical or functional bowel abnormalities. Additionally, iatrogenic botulism has infrequently occurred after intramuscular injection of botulinum toxin for treatment of certain dystonias and other disorders. Finally, inhalational botulism, though not naturally occurring, was reported among three German laboratory workers who inadvertently inhaled aerosolized toxin and could potentially occur after a deliberate aerosolization of toxin in a bioterrorism event. Any case of foodborne or unexplained botulism is considered to be a public health emergency because of the potential for toxin-containing foods to injure others who eat them and because of the potential misuse of botulinum toxin as a biological weapon. State and local public health officials by law must be informed immediately whenever botulism is suspected in a human patient. | 174 | Botulism |
nord_174_1 | Symptoms of Botulism | The incubation period for foodborne botulism is usually 12 – 36 hours but may range from a few hours to 10 days. Symptom onset might occur faster in an inhalational botulism scenario. Symptoms can range from mild to severe. The classic medical triad of botulism is a weakness or paralysis and reduced muscle tone in a patient without fever (afebrile) and with a clear sensorium (alert and able to respond to questions). Fever might occur after a secondary infection (e.g., aspiration pneumonia).The progression of illness is similar among patients with different types of botulism (foodborne, wound, inhalational) except that foodborne botulism patients often experience gastrointestinal symptoms such as nausea, vomiting, and diarrhea that precede the onset of neurologic illness.The typical neurologic presentation of botulism is a symmetric (same on both sides of the body), descending flaccid paralysis that begins in the nerves that control the muscles in the face, head, and neck (cranial nerves) and progresses to include proximal muscle groups such as hip and shoulder muscles and then distal extremity muscle groups such as muscles of wrists, hands, and feet. Severe illness can result in respiratory paralysis and death. Some patients also experience abdominal pain or cramping, constipation or ileus (paralytic obstruction of the intestines), and urinary retention. Sensory deficits or paresthesias are uncommon but can occur, and mental status typically remains clear provided the patient is adequately oxygenated.Cranial nerve deficits are usually bilateral and typically precede respiratory impairment or extremity weakness. Eye signs or symptoms may include double vision (diplopia) and/or blurred vision, impaired functioning of the muscles of the eyes (ophthalmoplegia), droopy eyelids (ptosis), dilation of the pupil (mydriasis), and depressed or loss of pupillary constriction to light. Other findings may include difficulty speaking (dysphonia) or slurred speech (dysarthria), difficulty in swallowing (dysphagia), a dry mouth and very dry or sore throat. Some individuals have a tongue that appears swollen or “coated” due to its dryness. The gag reflex may be suppressed.Affected individuals may experience generalized muscle weakness, often progressing rapidly from the head to involve the neck, arms, chest, and legs. The weakness is usually the same on both sides of the body (symmetric), descending, and spreads from proximal to distal muscle groups. Weakening of the deep tendon reflexes (hyporeflexia) or complete loss of reflexes (areflexia) may also be present. Difficulty breathing may also be present and may progress to respiratory failure from pharyngeal and upper airway muscle paralysis as well as paralysis of the diaphragm and accessory muscles of respiration.Wound botulism is characterized by the same neurological symptoms as foodborne botulism. However, the affected individual typically experiences no gastrointestinal symptoms, and no food can be implicated as the cause. The skin must be carefully checked for wounds. In the United States, wound botulism most commonly occurs among users of injection drugs, particularly black tar heroin and has most frequently been reported in western US states. Wound botulism may rarely occur after traumatic injury involving contamination with soil, or potentially after surgery. A fever due to infection from other bacteria may be present.Infant botulism generally affects infants under 12 months of age. The action of the toxin in the body produces constipation, weakness (notably of gag, cry, suck, and swallow), loss of muscle tone, and ultimately, limp (flaccid) paralysis. The severity and rapidity of onset of the disease varies greatly among affected infants. In the absence of complications, recovery is complete. | Symptoms of Botulism. The incubation period for foodborne botulism is usually 12 – 36 hours but may range from a few hours to 10 days. Symptom onset might occur faster in an inhalational botulism scenario. Symptoms can range from mild to severe. The classic medical triad of botulism is a weakness or paralysis and reduced muscle tone in a patient without fever (afebrile) and with a clear sensorium (alert and able to respond to questions). Fever might occur after a secondary infection (e.g., aspiration pneumonia).The progression of illness is similar among patients with different types of botulism (foodborne, wound, inhalational) except that foodborne botulism patients often experience gastrointestinal symptoms such as nausea, vomiting, and diarrhea that precede the onset of neurologic illness.The typical neurologic presentation of botulism is a symmetric (same on both sides of the body), descending flaccid paralysis that begins in the nerves that control the muscles in the face, head, and neck (cranial nerves) and progresses to include proximal muscle groups such as hip and shoulder muscles and then distal extremity muscle groups such as muscles of wrists, hands, and feet. Severe illness can result in respiratory paralysis and death. Some patients also experience abdominal pain or cramping, constipation or ileus (paralytic obstruction of the intestines), and urinary retention. Sensory deficits or paresthesias are uncommon but can occur, and mental status typically remains clear provided the patient is adequately oxygenated.Cranial nerve deficits are usually bilateral and typically precede respiratory impairment or extremity weakness. Eye signs or symptoms may include double vision (diplopia) and/or blurred vision, impaired functioning of the muscles of the eyes (ophthalmoplegia), droopy eyelids (ptosis), dilation of the pupil (mydriasis), and depressed or loss of pupillary constriction to light. Other findings may include difficulty speaking (dysphonia) or slurred speech (dysarthria), difficulty in swallowing (dysphagia), a dry mouth and very dry or sore throat. Some individuals have a tongue that appears swollen or “coated” due to its dryness. The gag reflex may be suppressed.Affected individuals may experience generalized muscle weakness, often progressing rapidly from the head to involve the neck, arms, chest, and legs. The weakness is usually the same on both sides of the body (symmetric), descending, and spreads from proximal to distal muscle groups. Weakening of the deep tendon reflexes (hyporeflexia) or complete loss of reflexes (areflexia) may also be present. Difficulty breathing may also be present and may progress to respiratory failure from pharyngeal and upper airway muscle paralysis as well as paralysis of the diaphragm and accessory muscles of respiration.Wound botulism is characterized by the same neurological symptoms as foodborne botulism. However, the affected individual typically experiences no gastrointestinal symptoms, and no food can be implicated as the cause. The skin must be carefully checked for wounds. In the United States, wound botulism most commonly occurs among users of injection drugs, particularly black tar heroin and has most frequently been reported in western US states. Wound botulism may rarely occur after traumatic injury involving contamination with soil, or potentially after surgery. A fever due to infection from other bacteria may be present.Infant botulism generally affects infants under 12 months of age. The action of the toxin in the body produces constipation, weakness (notably of gag, cry, suck, and swallow), loss of muscle tone, and ultimately, limp (flaccid) paralysis. The severity and rapidity of onset of the disease varies greatly among affected infants. In the absence of complications, recovery is complete. | 174 | Botulism |
nord_174_2 | Causes of Botulism | Foodborne botulism is the result of ingestion and absorption of toxin that is produced by C. botulinum in contaminated foods. Wound botulism is caused by toxin produced from a wound infected with C. botulinum. Unlike foodborne and wound botulism, infant botulism and adult intestinal colonization botulism result from ingestion of the bacterial spore(s) that grow and produce botulinum toxin within the large intestine. Honey is the one identified and avoidable food reservoir of these spores for infant botulism. After testing over the years of hundreds of foods, beverages and other items placed in infants’ mouths with negative results, it was concluded that the source of spores for most infant botulism patients is unknown but may be from ingestion of microscopic dust particles on which the spores travel.Botulinum toxin causes weakness and loss of muscle tone because it blocks the nerve ending’s ability to signal the linked muscle to contract.The bacterium C. botulinum is found in soils and marine sediments throughout the world. In the United States, foodborne botulism has been associated primarily with home-canned foods, particularly vegetables, and with Alaska Native foods, especially fermented fish.C. botulinum typically produces one of seven distinguishable toxin types, arbitrarily designated by the letters A through G. Botulism in humans is usually caused by toxin types A, B, and E, and rarely F. Most foodborne botulism is caused by contaminated home-canned foods, though outbreaks also occur from commercial foods, restaurant foods, or improper food handling practices. Foodborne botulism may also be associated with the ingestion of baked potatoes that have been stored (for extended periods of time) in aluminum foil at room temperature and with certain condiments, such as onion or garlic, stored in oil. Drinking alcohol made illicitly in prisons, known as hooch or pruno has also been associated with botulism outbreaks. Outbreaks of type E are usually associated with consumption of preserved, uncooked foods prepared from aquatic (freshwater or marine) fish or mammals. Types A and B are the principal causes of infant and wound botulism. | Causes of Botulism. Foodborne botulism is the result of ingestion and absorption of toxin that is produced by C. botulinum in contaminated foods. Wound botulism is caused by toxin produced from a wound infected with C. botulinum. Unlike foodborne and wound botulism, infant botulism and adult intestinal colonization botulism result from ingestion of the bacterial spore(s) that grow and produce botulinum toxin within the large intestine. Honey is the one identified and avoidable food reservoir of these spores for infant botulism. After testing over the years of hundreds of foods, beverages and other items placed in infants’ mouths with negative results, it was concluded that the source of spores for most infant botulism patients is unknown but may be from ingestion of microscopic dust particles on which the spores travel.Botulinum toxin causes weakness and loss of muscle tone because it blocks the nerve ending’s ability to signal the linked muscle to contract.The bacterium C. botulinum is found in soils and marine sediments throughout the world. In the United States, foodborne botulism has been associated primarily with home-canned foods, particularly vegetables, and with Alaska Native foods, especially fermented fish.C. botulinum typically produces one of seven distinguishable toxin types, arbitrarily designated by the letters A through G. Botulism in humans is usually caused by toxin types A, B, and E, and rarely F. Most foodborne botulism is caused by contaminated home-canned foods, though outbreaks also occur from commercial foods, restaurant foods, or improper food handling practices. Foodborne botulism may also be associated with the ingestion of baked potatoes that have been stored (for extended periods of time) in aluminum foil at room temperature and with certain condiments, such as onion or garlic, stored in oil. Drinking alcohol made illicitly in prisons, known as hooch or pruno has also been associated with botulism outbreaks. Outbreaks of type E are usually associated with consumption of preserved, uncooked foods prepared from aquatic (freshwater or marine) fish or mammals. Types A and B are the principal causes of infant and wound botulism. | 174 | Botulism |
nord_174_3 | Affects of Botulism | Infant botulism occurs globally and is the most common form of human botulism in the United States. Patients diagnosed with botulism demonstrated a predominance of toxin type A west of the Rocky Mountains and type B east of the Rocky Mountains, while type E is more prevalent in the Pacific Northwest, Alaska and the Great Lakes area. Type E also occurs in northern latitudes and Japan. National botulism surveillance information is available from Centers for Disease Control and Prevention (CDC) at the following link:
http://www.cdc.gov/nationalsurveillance/botulism-surveillance.html | Affects of Botulism. Infant botulism occurs globally and is the most common form of human botulism in the United States. Patients diagnosed with botulism demonstrated a predominance of toxin type A west of the Rocky Mountains and type B east of the Rocky Mountains, while type E is more prevalent in the Pacific Northwest, Alaska and the Great Lakes area. Type E also occurs in northern latitudes and Japan. National botulism surveillance information is available from Centers for Disease Control and Prevention (CDC) at the following link:
http://www.cdc.gov/nationalsurveillance/botulism-surveillance.html | 174 | Botulism |
nord_174_4 | Related disorders of Botulism | Symptoms of the following disorders can be similar to those of botulism. Comparisons may be useful for differential diagnosis.Lambert-Eaton myasthenic syndrome is a neuromuscular disorder that may be an autoimmune disease. Major symptoms include muscle weakness and fatigue especially of the pelvic and thigh muscles. Other symptoms may include dryness of the mouth, impotence, pain in the thighs, and a pricking, tingling or creeping sensation on the skin (paresthesias) around the affected areas. (For more information on this disorder, choose “Lambert-Eaton” as your search term in the Rare Disease Database.)Guillain-Barre syndrome (acute idiopathic polyneuritis) is a rare, rapidly progressive disorder resulting from inflammation of the nerves (polyneuritis) and resulting in paralysis. Although the precise cause of Guillain-Barre syndrome is unknown, a viral infection or Campylobacter gastroenteritis precedes the onset of the syndrome in about half of the cases. This has led to the theory that Guillain-Barre syndrome may be an autoimmune disease (caused by the body’s own immune system). Damage to the covering of nerve cells (myelin) and nerve axons (the extension of the nerve cell that conducts impulses away from the nerve cell body) results in delayed nerve signal transmission. There is a corresponding weakness in the muscles that are supplied with nerve impulses (innervated) by the affected nerves. (For more information on this disorder, choose “Guillain-Barre Syndrome” as your search term in the Rare Disease Database.)Myasthenia gravis is a chronic neuromuscular disease characterized by weakness and abnormally rapid fatigue of muscles, particularly those that are controlled by the brain stem (bulbar-innervated). The symptoms of myasthenia gravis typically improve following a period of rest. Any muscle may be affected by this disorder. However, the muscles around the eyes (extraocular) and those used in swallowing are most frequently affected by myasthenia gravis. (For more information on this disorder, choose “Myasthenia Gravis” as your search term in the Rare Disease Database.) | Related disorders of Botulism. Symptoms of the following disorders can be similar to those of botulism. Comparisons may be useful for differential diagnosis.Lambert-Eaton myasthenic syndrome is a neuromuscular disorder that may be an autoimmune disease. Major symptoms include muscle weakness and fatigue especially of the pelvic and thigh muscles. Other symptoms may include dryness of the mouth, impotence, pain in the thighs, and a pricking, tingling or creeping sensation on the skin (paresthesias) around the affected areas. (For more information on this disorder, choose “Lambert-Eaton” as your search term in the Rare Disease Database.)Guillain-Barre syndrome (acute idiopathic polyneuritis) is a rare, rapidly progressive disorder resulting from inflammation of the nerves (polyneuritis) and resulting in paralysis. Although the precise cause of Guillain-Barre syndrome is unknown, a viral infection or Campylobacter gastroenteritis precedes the onset of the syndrome in about half of the cases. This has led to the theory that Guillain-Barre syndrome may be an autoimmune disease (caused by the body’s own immune system). Damage to the covering of nerve cells (myelin) and nerve axons (the extension of the nerve cell that conducts impulses away from the nerve cell body) results in delayed nerve signal transmission. There is a corresponding weakness in the muscles that are supplied with nerve impulses (innervated) by the affected nerves. (For more information on this disorder, choose “Guillain-Barre Syndrome” as your search term in the Rare Disease Database.)Myasthenia gravis is a chronic neuromuscular disease characterized by weakness and abnormally rapid fatigue of muscles, particularly those that are controlled by the brain stem (bulbar-innervated). The symptoms of myasthenia gravis typically improve following a period of rest. Any muscle may be affected by this disorder. However, the muscles around the eyes (extraocular) and those used in swallowing are most frequently affected by myasthenia gravis. (For more information on this disorder, choose “Myasthenia Gravis” as your search term in the Rare Disease Database.) | 174 | Botulism |
nord_174_5 | Diagnosis of Botulism | The clinical diagnosis of botulism may be made based upon a thorough clinical evaluation and a detailed patient history. The mouse bioassay and mass spectrometry–based testing (Endopep-MS) are the “gold standard” methods for laboratory confirmation of the clinical diagnosis and may demonstrate the presence of botulinum toxin in serum, gastric fluid, stool (mouse bioassay testing only) or food (foodborne botulism) specimens. Botulism can also be confirmed by culture of C. botulinum organisms from gastric fluid, stool, or a contaminated wound (wound botulism). | Diagnosis of Botulism. The clinical diagnosis of botulism may be made based upon a thorough clinical evaluation and a detailed patient history. The mouse bioassay and mass spectrometry–based testing (Endopep-MS) are the “gold standard” methods for laboratory confirmation of the clinical diagnosis and may demonstrate the presence of botulinum toxin in serum, gastric fluid, stool (mouse bioassay testing only) or food (foodborne botulism) specimens. Botulism can also be confirmed by culture of C. botulinum organisms from gastric fluid, stool, or a contaminated wound (wound botulism). | 174 | Botulism |
nord_174_6 | Therapies of Botulism | Prevention
It is essential that both home-canned and commercially canned foods be prepared and stored properly to prevent the production of botulinum toxin. Food that shows any sign of spoilage should be discarded. It is important to refrigerate prepared foods such as soups and stews and to check the label for commercially prepared foods and refrigerate them as well to avoid the production of botulinum toxin.The following link provides information about proper techniques for canning:
http://nchfp.uga.edu/how/can_home.htmlClostridium botulinum spores are highly resistant to heat and may survive for several hours at temperatures of 100 C. Exposure to heat at 120 C destroys C. botulinum spores. In contrast to spores, botulinum toxin is easily inactivated by heat; thus, thoroughly heating food at 85 C or boiling may inactivate toxin. While home-canned food is the most common source for botulism, commercially prepared foods have been implicated as well. Vegetables, fish, and condiments are the most commonly implicated foods; however, beef, dairy products, pork, poultry, and other foods have also been implicated. To reduce the risk of infant botulism, honey should not be fed to infants less than 12 months of age.Treatment
Since respiratory impairment and its complications may be life-threatening, affected individuals should be hospitalized, closely supervised and promptly treated with antitoxin. Botulism is a public health emergency because of the severity of illness and because a single case may be the harbinger of many more. Physicians in the United States who suspect botulism should immediately consult with their local or state health department, no matter how low the suspicion. Health departments may then contact Centers for Disease Control and Prevention (CDC) to discuss appropriate testing and treatment of suspected patients. Rapid notification of public health personnel ensures timely treatment if indicated. It also enables rapid identification or prevention of related cases of botulism. State health departments and CDC are available 24 hours a day, 7 days a week through emergency contact numbers to respond to suspect botulism cases. If physicians are unable to reach their health department, they may contact CDC’s Emergency Operations Center at (770) 488-7100.
CDC provides additional information about botulism online at:
https://www.cdc.gov/botulism/Mechanical ventilation in cases of respiratory failure, and supportive care are known to save lives. Intravenous equine antitoxin, administered early in the course of illness, is the only specific treatment available for botulism. Antitoxin will not reverse established neurological deficits; improvement of impairment requires nerve regeneration and takes time. Antitoxin may, however, prevent the progression of disease. Heptavalent botulinum antitoxin that covers all 7 known botulinum toxin types and is available from CDC. Treatment should be initiated soon after botulism is suspected. However, the risks of treatment must be weighed against potential benefits.For the treatment of infant botulism, physicians may obtain Botulism Immune Globulin Intravenous (Human) (BabyBIG®) from the California Department of Public Health, Infant Botulism Treatment and Prevention Program (IBTPP) following clinical consultation with the on-call Program physician. BabyBIG® has been shown in clinical studies to substantially reduce the length and cost of hospital stay for infants treated within seven days of hospital admission. For suspected cases of infant botulism, the attending physician should first contact their state health department, and then may contact IBTPP at (510) 231-7600 (24 hours, 7 days) to request BabyBIG®. The IBTPP webpage at www.infantbotulism.org has additional information.Antibiotics are not typically used to treat botulism. If antibiotics are needed to treat an infection in a botulism patient (e.g., wound infection, pneumonia), then certain types of antibiotics (e.g., aminoglycosides) should be avoided, if possible, because they can worsen muscle weakness.Historically, guanidine was used to treat some patients affected with botulism, but it is no longer used. | Therapies of Botulism. Prevention
It is essential that both home-canned and commercially canned foods be prepared and stored properly to prevent the production of botulinum toxin. Food that shows any sign of spoilage should be discarded. It is important to refrigerate prepared foods such as soups and stews and to check the label for commercially prepared foods and refrigerate them as well to avoid the production of botulinum toxin.The following link provides information about proper techniques for canning:
http://nchfp.uga.edu/how/can_home.htmlClostridium botulinum spores are highly resistant to heat and may survive for several hours at temperatures of 100 C. Exposure to heat at 120 C destroys C. botulinum spores. In contrast to spores, botulinum toxin is easily inactivated by heat; thus, thoroughly heating food at 85 C or boiling may inactivate toxin. While home-canned food is the most common source for botulism, commercially prepared foods have been implicated as well. Vegetables, fish, and condiments are the most commonly implicated foods; however, beef, dairy products, pork, poultry, and other foods have also been implicated. To reduce the risk of infant botulism, honey should not be fed to infants less than 12 months of age.Treatment
Since respiratory impairment and its complications may be life-threatening, affected individuals should be hospitalized, closely supervised and promptly treated with antitoxin. Botulism is a public health emergency because of the severity of illness and because a single case may be the harbinger of many more. Physicians in the United States who suspect botulism should immediately consult with their local or state health department, no matter how low the suspicion. Health departments may then contact Centers for Disease Control and Prevention (CDC) to discuss appropriate testing and treatment of suspected patients. Rapid notification of public health personnel ensures timely treatment if indicated. It also enables rapid identification or prevention of related cases of botulism. State health departments and CDC are available 24 hours a day, 7 days a week through emergency contact numbers to respond to suspect botulism cases. If physicians are unable to reach their health department, they may contact CDC’s Emergency Operations Center at (770) 488-7100.
CDC provides additional information about botulism online at:
https://www.cdc.gov/botulism/Mechanical ventilation in cases of respiratory failure, and supportive care are known to save lives. Intravenous equine antitoxin, administered early in the course of illness, is the only specific treatment available for botulism. Antitoxin will not reverse established neurological deficits; improvement of impairment requires nerve regeneration and takes time. Antitoxin may, however, prevent the progression of disease. Heptavalent botulinum antitoxin that covers all 7 known botulinum toxin types and is available from CDC. Treatment should be initiated soon after botulism is suspected. However, the risks of treatment must be weighed against potential benefits.For the treatment of infant botulism, physicians may obtain Botulism Immune Globulin Intravenous (Human) (BabyBIG®) from the California Department of Public Health, Infant Botulism Treatment and Prevention Program (IBTPP) following clinical consultation with the on-call Program physician. BabyBIG® has been shown in clinical studies to substantially reduce the length and cost of hospital stay for infants treated within seven days of hospital admission. For suspected cases of infant botulism, the attending physician should first contact their state health department, and then may contact IBTPP at (510) 231-7600 (24 hours, 7 days) to request BabyBIG®. The IBTPP webpage at www.infantbotulism.org has additional information.Antibiotics are not typically used to treat botulism. If antibiotics are needed to treat an infection in a botulism patient (e.g., wound infection, pneumonia), then certain types of antibiotics (e.g., aminoglycosides) should be avoided, if possible, because they can worsen muscle weakness.Historically, guanidine was used to treat some patients affected with botulism, but it is no longer used. | 174 | Botulism |
nord_175_0 | Overview of Bowen Disease | Bowen disease is a rare skin disorder. Affected individuals develop a slow-growing, reddish scaly patch or plaque on the skin. Sun exposed areas of the skin are most often affected. Bowen disease only affects the outermost layer of the skin (epidermis). Lesions are usually not painful or may not be associated with any symptoms (asymptomatic). In most cases, treatment is highly successful. Bowen disease is considered a pre-cancerous condition, although the risk of developing skin cancer is less than 10 percent. The disorder usually affects older adults. The exact cause of Bowen disease is unknown, although there are identified risk factors such as chronic sun exposure.Bowen disease was first described in the medical literature by a physician named JT Bowen in 1912. Bowen disease is also known as squamous cell carcinoma in situ, and is generally considered an early, noninvasive form of intraepidermal squamous cell carcinoma. Intraepidermal means that the disease occurs inside the epidermal layer of the skin. | Overview of Bowen Disease. Bowen disease is a rare skin disorder. Affected individuals develop a slow-growing, reddish scaly patch or plaque on the skin. Sun exposed areas of the skin are most often affected. Bowen disease only affects the outermost layer of the skin (epidermis). Lesions are usually not painful or may not be associated with any symptoms (asymptomatic). In most cases, treatment is highly successful. Bowen disease is considered a pre-cancerous condition, although the risk of developing skin cancer is less than 10 percent. The disorder usually affects older adults. The exact cause of Bowen disease is unknown, although there are identified risk factors such as chronic sun exposure.Bowen disease was first described in the medical literature by a physician named JT Bowen in 1912. Bowen disease is also known as squamous cell carcinoma in situ, and is generally considered an early, noninvasive form of intraepidermal squamous cell carcinoma. Intraepidermal means that the disease occurs inside the epidermal layer of the skin. | 175 | Bowen Disease |
nord_175_1 | Symptoms of Bowen Disease | Typically, Bowen disease appears as a slow-growing, persistent reddish-brown patch or plaque of dry, scaly skin. These lesions may be flat or slightly raised. The lesions are normally not associated with any symptoms, but, occasionally, can itch, ooze pus (if infected), bleed or become crusted and/or tender. In some cases, the lesions may be warty (verrucous), split open (fissured) or, less often, darkly colored (pigmented). In most cases, there is only one lesion, but in approximately 10-20 percent of individuals multiple lesions may develop usually in more than one area of the body.Although Bowen disease occurs most often on sun exposed areas of the skin, it can develop anywhere on the body, even areas of the skin that are not usually exposed to the sun. The disorder most often develops on the lower legs. Less commonly, the head, neck, palms, soles and genitals can be affected. The lesions can measure anywhere from a few millimeters to a few centimeters.Individuals with Bowen disease are at risk of developing skin cancer. The risk is estimated to be less than 10 percent, but can be higher in individuals with a compromised immune system. Early signs of cancerous transformation in Bowen disease include the development of a fleshy nodule or bump in a skin lesion. This nodule may be tender and bleed easily. Ulceration or hardening (induration) of a skin lesion also indicates malignant transformation.Bowen disease is classified as an early, noninvasive form of squamous cell carcinoma, a type of skin cancer that most often occurs on sun damage areas of the skin. Squamous cell carcinoma is the second most common form of skin cancer. | Symptoms of Bowen Disease. Typically, Bowen disease appears as a slow-growing, persistent reddish-brown patch or plaque of dry, scaly skin. These lesions may be flat or slightly raised. The lesions are normally not associated with any symptoms, but, occasionally, can itch, ooze pus (if infected), bleed or become crusted and/or tender. In some cases, the lesions may be warty (verrucous), split open (fissured) or, less often, darkly colored (pigmented). In most cases, there is only one lesion, but in approximately 10-20 percent of individuals multiple lesions may develop usually in more than one area of the body.Although Bowen disease occurs most often on sun exposed areas of the skin, it can develop anywhere on the body, even areas of the skin that are not usually exposed to the sun. The disorder most often develops on the lower legs. Less commonly, the head, neck, palms, soles and genitals can be affected. The lesions can measure anywhere from a few millimeters to a few centimeters.Individuals with Bowen disease are at risk of developing skin cancer. The risk is estimated to be less than 10 percent, but can be higher in individuals with a compromised immune system. Early signs of cancerous transformation in Bowen disease include the development of a fleshy nodule or bump in a skin lesion. This nodule may be tender and bleed easily. Ulceration or hardening (induration) of a skin lesion also indicates malignant transformation.Bowen disease is classified as an early, noninvasive form of squamous cell carcinoma, a type of skin cancer that most often occurs on sun damage areas of the skin. Squamous cell carcinoma is the second most common form of skin cancer. | 175 | Bowen Disease |
nord_175_2 | Causes of Bowen Disease | The exact cause of Bowen disease is unknown. Chronic sun exposure and aging are believed to be two major risk factors for developing the disorder. Individuals with fair skin and individuals who spend a lot of time outdoors in the sun are at a greater risk of developing Bowen disease. Individuals who take drugs to suppress the immune system (usually taken to treat an immune system disorder) are also at a greater risk than the general population of developing Bowen disease.Individuals who have cutaneous human papillomavirus (HPV) infection are at risk of developing Bowen disease. Human papilloma viruses are a group of more than 150 related viruses, some of which can cause cancer. HPV 16, 18, 34, and 48 have caused Bowen disease at genital sites. HPV 16 is most commonly associated with the development of Bowen disease. HPV 16 is also the cause of some cases of cervical cancer. Less often, HPV types 2, 16, 34, and 35 are associated with Bowen disease in areas of the body other than the genitals.Chronic exposure to arsenic appears to be a risk factor for the development of Bowen disease as well. Arsenic is a tasteless, colorless metal element. Arsenic has many uses in manufacturing and other commercial uses. According to the medical literature, chronic exposure to arsenic can cause Bowen disease, approximately 10 years or so after initial exposure. In the past, arsenic was known to have contaminated well water and was once used in various medical preparations. Arsenic exposure occurs far less often today than it did in the past. | Causes of Bowen Disease. The exact cause of Bowen disease is unknown. Chronic sun exposure and aging are believed to be two major risk factors for developing the disorder. Individuals with fair skin and individuals who spend a lot of time outdoors in the sun are at a greater risk of developing Bowen disease. Individuals who take drugs to suppress the immune system (usually taken to treat an immune system disorder) are also at a greater risk than the general population of developing Bowen disease.Individuals who have cutaneous human papillomavirus (HPV) infection are at risk of developing Bowen disease. Human papilloma viruses are a group of more than 150 related viruses, some of which can cause cancer. HPV 16, 18, 34, and 48 have caused Bowen disease at genital sites. HPV 16 is most commonly associated with the development of Bowen disease. HPV 16 is also the cause of some cases of cervical cancer. Less often, HPV types 2, 16, 34, and 35 are associated with Bowen disease in areas of the body other than the genitals.Chronic exposure to arsenic appears to be a risk factor for the development of Bowen disease as well. Arsenic is a tasteless, colorless metal element. Arsenic has many uses in manufacturing and other commercial uses. According to the medical literature, chronic exposure to arsenic can cause Bowen disease, approximately 10 years or so after initial exposure. In the past, arsenic was known to have contaminated well water and was once used in various medical preparations. Arsenic exposure occurs far less often today than it did in the past. | 175 | Bowen Disease |
nord_175_3 | Affects of Bowen Disease | The exact incidence of Bowen disease in the general population is unknown. Bowen disease is most frequently diagnosed in Caucasian individuals over the age of 60, although can occur in individuals much younger. It is believed to occur more frequently in males than females. | Affects of Bowen Disease. The exact incidence of Bowen disease in the general population is unknown. Bowen disease is most frequently diagnosed in Caucasian individuals over the age of 60, although can occur in individuals much younger. It is believed to occur more frequently in males than females. | 175 | Bowen Disease |
nord_175_4 | Related disorders of Bowen Disease | Symptoms of the following disorders can be similar to those of Bowen disease. Comparisons may be useful for a differential diagnosis.There are numerous different skin disorders that can resemble Bowen disease and the disorder is often mistaken for psoriasis or eczema. Additional skin disorders that can resemble Bowen disease include superficial basal cell carcinoma, actinic keratosis, seborrheic keratosis, lichen planus, tinea corporis and extramammary Paget’s disease. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)When Bowen disease affects the genitals, it may be known as erythroplasia of Queyrat (involving the mucosal inner surface of the glans) in men or as a type of vulval intraepithelial neoplasia in women. Some researchers considered these conditions separate entities that are related to, but distinct from, Bowen disease.Erythroplasia of Queyrat is also known as Bowen disease of the glans penis, although the latter term actually refers to the condition on the outer keratinized surface of the penis. The glans penis is the sensitive tip of the penis. Affected individuals develop a reddish, velvety or smooth plaque. A wide variety of symptoms can occur including crusting, scaling, ulceration, pain or itching. Bleeding, difficulty or pain when urinating (dysuria), or discharge may also occur. Erythroplasia of Queyrat occurs most often in middle aged men who are not circumscribed. The exact, underlying cause is of this disorder is unknown.Vulvar intraepithelial neoplasia (VIN) is a general term for a skin condition that affects the vulva of women. Lesions may be bright red and have a velvety appearance. Initially there may be no associated symptoms, but eventually itching or burning sensations may develop. Itching can potentially be severe. The exact cause of VIN is unknown, but in many cases is strongly associated with human papillomavirus 16. | Related disorders of Bowen Disease. Symptoms of the following disorders can be similar to those of Bowen disease. Comparisons may be useful for a differential diagnosis.There are numerous different skin disorders that can resemble Bowen disease and the disorder is often mistaken for psoriasis or eczema. Additional skin disorders that can resemble Bowen disease include superficial basal cell carcinoma, actinic keratosis, seborrheic keratosis, lichen planus, tinea corporis and extramammary Paget’s disease. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)When Bowen disease affects the genitals, it may be known as erythroplasia of Queyrat (involving the mucosal inner surface of the glans) in men or as a type of vulval intraepithelial neoplasia in women. Some researchers considered these conditions separate entities that are related to, but distinct from, Bowen disease.Erythroplasia of Queyrat is also known as Bowen disease of the glans penis, although the latter term actually refers to the condition on the outer keratinized surface of the penis. The glans penis is the sensitive tip of the penis. Affected individuals develop a reddish, velvety or smooth plaque. A wide variety of symptoms can occur including crusting, scaling, ulceration, pain or itching. Bleeding, difficulty or pain when urinating (dysuria), or discharge may also occur. Erythroplasia of Queyrat occurs most often in middle aged men who are not circumscribed. The exact, underlying cause is of this disorder is unknown.Vulvar intraepithelial neoplasia (VIN) is a general term for a skin condition that affects the vulva of women. Lesions may be bright red and have a velvety appearance. Initially there may be no associated symptoms, but eventually itching or burning sensations may develop. Itching can potentially be severe. The exact cause of VIN is unknown, but in many cases is strongly associated with human papillomavirus 16. | 175 | Bowen Disease |
nord_175_5 | Diagnosis of Bowen Disease | A diagnosis of Bowen disease is suspected based upon identification of characteristic symptoms, a detailed patient history and a thorough clinical evaluation. The disorder is easily mistaken for other skin disorders such as eczema or psoriasis and can be overlooked because there may be no associated symptoms. Bowen disease may sometimes first be noticed during a routine skin examination.Clinical Testing and Work-Up
Diagnosis of Bowen disease may be confirmed by a biopsy of affected tissue. With a biopsy, a sample of affected tissue is removed and studied under a microscope. A biopsy can help to differentiate Bowen disease from other skin disorders with a similar appearance. The sample taken must be deep enough to rule out invasive squamous cell carcinoma. | Diagnosis of Bowen Disease. A diagnosis of Bowen disease is suspected based upon identification of characteristic symptoms, a detailed patient history and a thorough clinical evaluation. The disorder is easily mistaken for other skin disorders such as eczema or psoriasis and can be overlooked because there may be no associated symptoms. Bowen disease may sometimes first be noticed during a routine skin examination.Clinical Testing and Work-Up
Diagnosis of Bowen disease may be confirmed by a biopsy of affected tissue. With a biopsy, a sample of affected tissue is removed and studied under a microscope. A biopsy can help to differentiate Bowen disease from other skin disorders with a similar appearance. The sample taken must be deep enough to rule out invasive squamous cell carcinoma. | 175 | Bowen Disease |
nord_175_6 | Therapies of Bowen Disease | Treatment
There is no specific, definitive treatment for Bowen disease. Several different therapies may be used all of which have excellent success rates. The specific treatment for an individual case depends upon numerous factors, such as the site of the body affected; the size, thickness and number of the lesion(s); the presence or absence of certain symptoms; an individual’s age and general health; and/or additional elements. Decisions concerning the use of particular drug regimens and/or other treatments should be made by physicians and other members of the health care team in careful consultation with the patient 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.A wide variety of treatment options exist for individuals with Bowen disease including topical chemotherapy, cryotherapy, curettage, photodynamic therapy and surgery. Most therapies have an excellent response rate and the prognosis of Bowen disease in most cases is excellent. The response to a particular therapy may vary – what works for one person may be less effective in another. A treatment plan for Bowen disease will be tailored to a patient based on what is best for his or her individual case.Some individuals may opt for no treatment (watch and wait). Watch and wait refers to when physicians follow a patient with a slow-growing disorder without giving treatment until progression of the disease occurs. This allows some people to avoid undergoing such therapies for many years. Elderly patients with a slow growing lesion in an area where healing may be poor (e.g., lower leg) are candidates for watch and wait.Topical chemotherapy involves the application of creams applied directly to the lesion. Two common topical medications used to treat Bowen disease are 5-fluorouracil and imiquimod 5%. These treatments may be used alone or in conjunction with other therapies. 5-fluorouracil works by destroying the abnormal skin cells. Generally, affected individuals apply the cream once or twice daily for at least two weeks if not much longer.Imiquimod 5% is generally used for lesions on the lower legs, larger lesions and the erythroplasia of Queyrat variant of Bowen disease.Many individuals with Bowen disease may opt for surgical removal of a lesion. Straightforward surgical removal in which the lesion is cut out and the wound is closed by sutures may be used. Surgical removal of a lesion is highly successful, but will leave a surgical scar.A specific type of surgery called Mohs micrographic surgery is usually not required, but occasionally may be recommended for some individuals with Bowen disease, especially those with larger lesions, recurrent lesions on the head and neck or lesions that are located on areas that require as much preservation of the tissue as possible, e.g. around the nail. With this surgery, a surgeon uses a precise technique to remove the diseased tissue one layer at a time. According to the medical literature, Mohs surgery has the highest cure rate of all treatment options.Cryotherapy may also be used to treat Bowen disease. Cryotherapy is the use of extreme cold to freeze and destroy the tissue and cells of skin lesions. Cryotherapy is a minimally invasive treatment option. With cryotherapy a freezing substance such as liquid nitrogen or argon gas is applied directly to the lesion. Cryotherapy is most effective for single or small lesions.Another surgical procedure used to treat individuals with Bowen disease is curettage with cautery/electrocautery. With curettage, the lesion is scraped off the skin. The procedure is usually performed under anesthesia. In some cases, curettage may be followed by cauterization, in which the lesion is burned by an electrical charge. This procedure may need to be repeated in some cases and will often leave a small white scar.Photodynamic therapy, a procedure in which a drug known as a photosensitizer is used along with a special type of red light, to treat some individuals with Bowen disease who have large or multiple lesions. During photodynamic therapy, the drug is administered to an affected individual and absorbed by the affected cells. A specific wavelength of light is used to activate the drug which binds with oxygen creating a chemical that destroys the affected cells.In the past, x-ray or radiation therapy (radiotherapy) was often used to treat individuals with Bowen disease, especially individuals who were poor candidates for surgery or who had multiple lesions. Individuals with lesions on the legs are not recommended for radiotherapy because of poor wound healing in that area. Radiotherapy is used less often for the treatment of Bowen disease today than it was in the past.Prevention
The most important step to take to lower the risk of Bowen disease is to limit or avoid excess exposure to the sun. Protective clothing, sunscreen, avoiding tanning beds and other measures can be taken to lower the risk of developing Bowen disease. | Therapies of Bowen Disease. Treatment
There is no specific, definitive treatment for Bowen disease. Several different therapies may be used all of which have excellent success rates. The specific treatment for an individual case depends upon numerous factors, such as the site of the body affected; the size, thickness and number of the lesion(s); the presence or absence of certain symptoms; an individual’s age and general health; and/or additional elements. Decisions concerning the use of particular drug regimens and/or other treatments should be made by physicians and other members of the health care team in careful consultation with the patient 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.A wide variety of treatment options exist for individuals with Bowen disease including topical chemotherapy, cryotherapy, curettage, photodynamic therapy and surgery. Most therapies have an excellent response rate and the prognosis of Bowen disease in most cases is excellent. The response to a particular therapy may vary – what works for one person may be less effective in another. A treatment plan for Bowen disease will be tailored to a patient based on what is best for his or her individual case.Some individuals may opt for no treatment (watch and wait). Watch and wait refers to when physicians follow a patient with a slow-growing disorder without giving treatment until progression of the disease occurs. This allows some people to avoid undergoing such therapies for many years. Elderly patients with a slow growing lesion in an area where healing may be poor (e.g., lower leg) are candidates for watch and wait.Topical chemotherapy involves the application of creams applied directly to the lesion. Two common topical medications used to treat Bowen disease are 5-fluorouracil and imiquimod 5%. These treatments may be used alone or in conjunction with other therapies. 5-fluorouracil works by destroying the abnormal skin cells. Generally, affected individuals apply the cream once or twice daily for at least two weeks if not much longer.Imiquimod 5% is generally used for lesions on the lower legs, larger lesions and the erythroplasia of Queyrat variant of Bowen disease.Many individuals with Bowen disease may opt for surgical removal of a lesion. Straightforward surgical removal in which the lesion is cut out and the wound is closed by sutures may be used. Surgical removal of a lesion is highly successful, but will leave a surgical scar.A specific type of surgery called Mohs micrographic surgery is usually not required, but occasionally may be recommended for some individuals with Bowen disease, especially those with larger lesions, recurrent lesions on the head and neck or lesions that are located on areas that require as much preservation of the tissue as possible, e.g. around the nail. With this surgery, a surgeon uses a precise technique to remove the diseased tissue one layer at a time. According to the medical literature, Mohs surgery has the highest cure rate of all treatment options.Cryotherapy may also be used to treat Bowen disease. Cryotherapy is the use of extreme cold to freeze and destroy the tissue and cells of skin lesions. Cryotherapy is a minimally invasive treatment option. With cryotherapy a freezing substance such as liquid nitrogen or argon gas is applied directly to the lesion. Cryotherapy is most effective for single or small lesions.Another surgical procedure used to treat individuals with Bowen disease is curettage with cautery/electrocautery. With curettage, the lesion is scraped off the skin. The procedure is usually performed under anesthesia. In some cases, curettage may be followed by cauterization, in which the lesion is burned by an electrical charge. This procedure may need to be repeated in some cases and will often leave a small white scar.Photodynamic therapy, a procedure in which a drug known as a photosensitizer is used along with a special type of red light, to treat some individuals with Bowen disease who have large or multiple lesions. During photodynamic therapy, the drug is administered to an affected individual and absorbed by the affected cells. A specific wavelength of light is used to activate the drug which binds with oxygen creating a chemical that destroys the affected cells.In the past, x-ray or radiation therapy (radiotherapy) was often used to treat individuals with Bowen disease, especially individuals who were poor candidates for surgery or who had multiple lesions. Individuals with lesions on the legs are not recommended for radiotherapy because of poor wound healing in that area. Radiotherapy is used less often for the treatment of Bowen disease today than it was in the past.Prevention
The most important step to take to lower the risk of Bowen disease is to limit or avoid excess exposure to the sun. Protective clothing, sunscreen, avoiding tanning beds and other measures can be taken to lower the risk of developing Bowen disease. | 175 | Bowen Disease |
nord_176_0 | Overview of Bowen Hutterite Syndrome | Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities. These may include restricted joint movements, abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the fifth fingers, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have kidney (renal), brain, and/or other malformations. Bowen Hutterite syndrome is inherited as an autosomal recessive trait. | Overview of Bowen Hutterite Syndrome. Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities. These may include restricted joint movements, abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the fifth fingers, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have kidney (renal), brain, and/or other malformations. Bowen Hutterite syndrome is inherited as an autosomal recessive trait. | 176 | Bowen Hutterite Syndrome |
nord_176_1 | Symptoms of Bowen Hutterite Syndrome | Bowen Hutterite syndrome is primarily characterized by distinctive malformations of the head and facial (craniofacial) area as well as additional skeletal, genital, kidney (renal), and/or brain abnormalities.In most instances, there are abnormal growth delays before birth (intrauterine growth retardation), resulting in a low birth weight. In addition, in some cases, the fetus may be in a breech presentation, meaning that the buttocks or feet (rather than the head) may present first in the birth canal during delivery. A breech presentation may cause difficulties during labor and an increased risk of complications.In infants with Bowen Hutterite syndrome, characteristic findings include poor suckling ability, associated feeding difficulties, and failure to grow and gain weight at the expected rate (failure to thrive). In addition, most affected infants have a characteristic appearance strongly resembling that of infants with Trisomy 18 syndrome, a chromosomal disorder. (For further information on this disorder, please see the “Related Disorders” section of this report below.) For example, infants with Bowen Hutterite syndrome tend to have a distinctive facial appearance due to certain craniofacial malformations. These may include an abnormally small head (microcephaly) that appears unusually long and narrow (dolichocephaly); a prominent nose; a small, underdeveloped jaw (micrognathia); and a small chin.Bowen Hutterite syndrome is also typically associated with malformations of the hands and feet. Affected infants may have abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the fifth fingers; underdeveloped (hypoplastic) nails; and/or a deformity in which the feet appear shaped like the rocker of a rocking chair (“rocker-bottom feet”) with malformation of the ankle bones (vertical tali). Additional musculoskeletal defects may also be present, such as limited movements of certain joints or malformations of bones in the spinal column (vertebrae).Bowen Hutterite syndrome may also be characterized by genital malformations. In affected males, the testes fail to descend into the scrotum (cryptorchidism). In addition, there may be abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. Additional malformations may also be associated with the disorder, such as protrusion of portions of the intestine through an abnormal opening in muscles of the groin (inguinal hernia), joining of the two kidneys at the base, creating a “horseshoe”-like shape (horseshoe kidneys), or other renal defects, and/or structural abnormalities of the heart (congenital heart defects). Infants with Bowen Hutterite syndrome may also be susceptible to respiratory infections, such as pneumonia. A few cases have been reported of infants with the disorder who also have brain malformations, such as absence of part of the narrow protrusion or lobe between the two hemispheres of the region of the brain known as the cerebellum.According to reports in the medical literature, individuals with Bowen-Hutterite syndrome may develop life-threatening complications within the first months or years of life. | Symptoms of Bowen Hutterite Syndrome. Bowen Hutterite syndrome is primarily characterized by distinctive malformations of the head and facial (craniofacial) area as well as additional skeletal, genital, kidney (renal), and/or brain abnormalities.In most instances, there are abnormal growth delays before birth (intrauterine growth retardation), resulting in a low birth weight. In addition, in some cases, the fetus may be in a breech presentation, meaning that the buttocks or feet (rather than the head) may present first in the birth canal during delivery. A breech presentation may cause difficulties during labor and an increased risk of complications.In infants with Bowen Hutterite syndrome, characteristic findings include poor suckling ability, associated feeding difficulties, and failure to grow and gain weight at the expected rate (failure to thrive). In addition, most affected infants have a characteristic appearance strongly resembling that of infants with Trisomy 18 syndrome, a chromosomal disorder. (For further information on this disorder, please see the “Related Disorders” section of this report below.) For example, infants with Bowen Hutterite syndrome tend to have a distinctive facial appearance due to certain craniofacial malformations. These may include an abnormally small head (microcephaly) that appears unusually long and narrow (dolichocephaly); a prominent nose; a small, underdeveloped jaw (micrognathia); and a small chin.Bowen Hutterite syndrome is also typically associated with malformations of the hands and feet. Affected infants may have abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the fifth fingers; underdeveloped (hypoplastic) nails; and/or a deformity in which the feet appear shaped like the rocker of a rocking chair (“rocker-bottom feet”) with malformation of the ankle bones (vertical tali). Additional musculoskeletal defects may also be present, such as limited movements of certain joints or malformations of bones in the spinal column (vertebrae).Bowen Hutterite syndrome may also be characterized by genital malformations. In affected males, the testes fail to descend into the scrotum (cryptorchidism). In addition, there may be abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. Additional malformations may also be associated with the disorder, such as protrusion of portions of the intestine through an abnormal opening in muscles of the groin (inguinal hernia), joining of the two kidneys at the base, creating a “horseshoe”-like shape (horseshoe kidneys), or other renal defects, and/or structural abnormalities of the heart (congenital heart defects). Infants with Bowen Hutterite syndrome may also be susceptible to respiratory infections, such as pneumonia. A few cases have been reported of infants with the disorder who also have brain malformations, such as absence of part of the narrow protrusion or lobe between the two hemispheres of the region of the brain known as the cerebellum.According to reports in the medical literature, individuals with Bowen-Hutterite syndrome may develop life-threatening complications within the first months or years of life. | 176 | Bowen Hutterite Syndrome |
nord_176_2 | Causes of Bowen Hutterite Syndrome | Bowen Hutterite syndrome is transmitted as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal. The risk is the same for each pregnancy. The parents of most individuals with Bowen Hutterite syndrome have been closely related by blood (consanguineous). In recessive disorders, if both parents carry the same gene for the same disease trait, there is an increased risk that their children may inherit the two genes necessary for development of the disease. | Causes of Bowen Hutterite Syndrome. Bowen Hutterite syndrome is transmitted as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal. The risk is the same for each pregnancy. The parents of most individuals with Bowen Hutterite syndrome have been closely related by blood (consanguineous). In recessive disorders, if both parents carry the same gene for the same disease trait, there is an increased risk that their children may inherit the two genes necessary for development of the disease. | 176 | Bowen Hutterite Syndrome |
nord_176_3 | Affects of Bowen Hutterite Syndrome | Bowen Hutterite syndrome appears to affect males and females in equal numbers. Since the disorder was originally described in two brothers in 1976 (P. Bowen), over 20 cases have been reported in the medical literature. Most affected individuals are Hutterites. The Hutterites are members of a religious sect (Anabaptists) originally from Moravia who live communally in certain regions of the United States (e.g., Montana, North and South Dakota) and Alberta, Canada. | Affects of Bowen Hutterite Syndrome. Bowen Hutterite syndrome appears to affect males and females in equal numbers. Since the disorder was originally described in two brothers in 1976 (P. Bowen), over 20 cases have been reported in the medical literature. Most affected individuals are Hutterites. The Hutterites are members of a religious sect (Anabaptists) originally from Moravia who live communally in certain regions of the United States (e.g., Montana, North and South Dakota) and Alberta, Canada. | 176 | Bowen Hutterite Syndrome |
nord_176_4 | Related disorders of Bowen Hutterite Syndrome | DiagnosisAs mentioned above, in some cases of Bowen Hutterite syndrome, the fetus may be in a breech presentation. In such cases, before delivery, obstetricians may sometimes attempt to turn the fetus to present head first and/or may recommend delivery by cesarean section. A cesarean section is a surgical procedure in which a baby is delivered from the uterus through an incision in the abdomen. The diagnosis of Bowen Hutterite syndrome is typically made at or shortly after birth based upon a thorough clinical evaluation, a careful family history, and characteristic physical findings. In some cases, advanced imaging techniques or other specialized testing may be conducted to detect or characterize certain abnormalities that may be associated with the disorder (e.g., skeletal, cardiac, and/or brain malformations).TreatmentThe treatment of Bowen Hutterite syndrome 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 neurological disorders (neurologists); physicians who specialize in disorders of the bones, joints, muscles, and related tissues (orthopedists); physicians who diagnose and treat heart abnormalities (cardiologists); and/or other health care professionals.For many affected infants, supportive measures may be required to help improve feeding and the intake of necessary nutrients. Such measures may include the delivery of liquid nutrients to the stomach through a tube inserted through the nose (nasogastric tube feeding). In addition, for those with hydrocephalus, a specialized device (shunt) may be surgically implanted to drain excess cerebrospinal fluid (CSF) away from the brain and into another part of the body where the CSF can be absorbed. In some cases, surgical measures may be recommended to help repair certain malformations potentially associated with the disorder. The specific surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors. Genetic counseling will be of benefit for families of affected infants and children. Other treatment for Bowen Hutterite syndrome is symptomatic and supportive. | Related disorders of Bowen Hutterite Syndrome. DiagnosisAs mentioned above, in some cases of Bowen Hutterite syndrome, the fetus may be in a breech presentation. In such cases, before delivery, obstetricians may sometimes attempt to turn the fetus to present head first and/or may recommend delivery by cesarean section. A cesarean section is a surgical procedure in which a baby is delivered from the uterus through an incision in the abdomen. The diagnosis of Bowen Hutterite syndrome is typically made at or shortly after birth based upon a thorough clinical evaluation, a careful family history, and characteristic physical findings. In some cases, advanced imaging techniques or other specialized testing may be conducted to detect or characterize certain abnormalities that may be associated with the disorder (e.g., skeletal, cardiac, and/or brain malformations).TreatmentThe treatment of Bowen Hutterite syndrome 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 neurological disorders (neurologists); physicians who specialize in disorders of the bones, joints, muscles, and related tissues (orthopedists); physicians who diagnose and treat heart abnormalities (cardiologists); and/or other health care professionals.For many affected infants, supportive measures may be required to help improve feeding and the intake of necessary nutrients. Such measures may include the delivery of liquid nutrients to the stomach through a tube inserted through the nose (nasogastric tube feeding). In addition, for those with hydrocephalus, a specialized device (shunt) may be surgically implanted to drain excess cerebrospinal fluid (CSF) away from the brain and into another part of the body where the CSF can be absorbed. In some cases, surgical measures may be recommended to help repair certain malformations potentially associated with the disorder. The specific surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors. Genetic counseling will be of benefit for families of affected infants and children. Other treatment for Bowen Hutterite syndrome is symptomatic and supportive. | 176 | Bowen Hutterite Syndrome |
nord_176_5 | Diagnosis of Bowen Hutterite Syndrome | Diagnosis of Bowen Hutterite Syndrome. | 176 | Bowen Hutterite Syndrome |
|
nord_176_6 | Therapies of Bowen Hutterite Syndrome | Treatment of Bowen Hutterite Syndrome is symptomatic and supportive. Feeding through a surgical opening into the stomach (gastrostomy) may be needed in some cases.Genetic counseling will be of benefit for patients and their families. | Therapies of Bowen Hutterite Syndrome. Treatment of Bowen Hutterite Syndrome is symptomatic and supportive. Feeding through a surgical opening into the stomach (gastrostomy) may be needed in some cases.Genetic counseling will be of benefit for patients and their families. | 176 | Bowen Hutterite Syndrome |
nord_177_0 | Overview of Bowenoid Papulosis | Bowenoid Papulosis is a rare, sexually transmitted disorder thought to be caused by human papillomavirus type 16. This disorder is characterized by lesions that are found on the genitals of males and females. The lesions are reddish brown or violet in color, small, solid, raised and sometimes velvety. | Overview of Bowenoid Papulosis. Bowenoid Papulosis is a rare, sexually transmitted disorder thought to be caused by human papillomavirus type 16. This disorder is characterized by lesions that are found on the genitals of males and females. The lesions are reddish brown or violet in color, small, solid, raised and sometimes velvety. | 177 | Bowenoid Papulosis |
nord_177_1 | Symptoms of Bowenoid Papulosis | Bowenoid Papulosis is a rare sexually transmitted infection that is characterized by lesions that are typically found on the genitals. These lesions may last from two weeks to several years. Females may be affected inside the vagina, on the clitoris, groin folds, labia major, labia minor and/or anus. Males may be affected on the glans, shaft and/or foreskin of the penis as well as the anus. The lesions found in Bowenoid Papulosis are usually reddish brown or violet in color, small, solid, smooth, raised and velvety. The lesions on females are usually darker than the lesions on males.Many patients with Bowenoid Papulosis often have other types of viral infections that precede this condition. Herpes simplex, human papallomavirus, viral warts, and HIV infection have been found in some patients with this disorder. When viewed under a microscope the Bowenoid Papulosis tissue structure looks like pre-invasive squamous-cell carcinoma (a form of cancer cells). In some cases Bowenoid Papulosis has become malignant. | Symptoms of Bowenoid Papulosis. Bowenoid Papulosis is a rare sexually transmitted infection that is characterized by lesions that are typically found on the genitals. These lesions may last from two weeks to several years. Females may be affected inside the vagina, on the clitoris, groin folds, labia major, labia minor and/or anus. Males may be affected on the glans, shaft and/or foreskin of the penis as well as the anus. The lesions found in Bowenoid Papulosis are usually reddish brown or violet in color, small, solid, smooth, raised and velvety. The lesions on females are usually darker than the lesions on males.Many patients with Bowenoid Papulosis often have other types of viral infections that precede this condition. Herpes simplex, human papallomavirus, viral warts, and HIV infection have been found in some patients with this disorder. When viewed under a microscope the Bowenoid Papulosis tissue structure looks like pre-invasive squamous-cell carcinoma (a form of cancer cells). In some cases Bowenoid Papulosis has become malignant. | 177 | Bowenoid Papulosis |
nord_177_2 | Causes of Bowenoid Papulosis | Bowenoid Papulosis is a sexually transmitted disorder thought to be caused by human papillomavirus type 16. Other viruses as well as a suppressed immune system may also play a role in contracting Bowenoid Papulosis. | Causes of Bowenoid Papulosis. Bowenoid Papulosis is a sexually transmitted disorder thought to be caused by human papillomavirus type 16. Other viruses as well as a suppressed immune system may also play a role in contracting Bowenoid Papulosis. | 177 | Bowenoid Papulosis |
nord_177_3 | Affects of Bowenoid Papulosis | Bowenoid Papulosis affects sexually active males (average age, 30) and females (average age, 32) equally. However, in the literature, Bowenoid Papulosis patients range in age from 3 to 80. It has recently been appearing in increasing numbers worldwide. | Affects of Bowenoid Papulosis. Bowenoid Papulosis affects sexually active males (average age, 30) and females (average age, 32) equally. However, in the literature, Bowenoid Papulosis patients range in age from 3 to 80. It has recently been appearing in increasing numbers worldwide. | 177 | Bowenoid Papulosis |
nord_177_4 | Related disorders of Bowenoid Papulosis | Symptoms of the following disorders can be similar to those of Bowenoid Papulosis. Comparisons may be useful for a differential diagnosis:Bowen's Disease is characterized by a precancerous, slow growing skin malignancy. The major symptom is a red-brown, scaly or crusted patch on the skin which resembles psoriasis or dermatitis. It may occur on any part of the skin or in the mucous membranes. (For more information on this disorder, choose “Bowen's Disease” as your search term in the Rare Disease Database.)Condyloma is a common infectious venereal disease that is caused by the human papillomavirus (HPV) and usually transmitted by direct sexual contact. The warts found in this disorder are small, soft, moist, pink or red elevations on the skin or mucous membranes of the genitals, mouth, anus or rectum. Typically the warts form in clusters. (For more information on this disorder, choose “Condyloma” as your search term in the Rare Disease Database.)Lichen Planus is a recurrent, itchy, inflammatory eruption of the skin which is characterized by small, separate, angular spots that may grow together forming rough scaly patches. It is often accompanied by oral lesions. Women are most commonly affected by this disorder. The lesions are most commonly found on the joint surfaces of the wrists and on the legs, trunk, glands, penis and mucous membrane of the mouth and vagina. (For more information on this disorder, choose “Lichen Planus” as your search term in the Rare Disease Database.) | Related disorders of Bowenoid Papulosis. Symptoms of the following disorders can be similar to those of Bowenoid Papulosis. Comparisons may be useful for a differential diagnosis:Bowen's Disease is characterized by a precancerous, slow growing skin malignancy. The major symptom is a red-brown, scaly or crusted patch on the skin which resembles psoriasis or dermatitis. It may occur on any part of the skin or in the mucous membranes. (For more information on this disorder, choose “Bowen's Disease” as your search term in the Rare Disease Database.)Condyloma is a common infectious venereal disease that is caused by the human papillomavirus (HPV) and usually transmitted by direct sexual contact. The warts found in this disorder are small, soft, moist, pink or red elevations on the skin or mucous membranes of the genitals, mouth, anus or rectum. Typically the warts form in clusters. (For more information on this disorder, choose “Condyloma” as your search term in the Rare Disease Database.)Lichen Planus is a recurrent, itchy, inflammatory eruption of the skin which is characterized by small, separate, angular spots that may grow together forming rough scaly patches. It is often accompanied by oral lesions. Women are most commonly affected by this disorder. The lesions are most commonly found on the joint surfaces of the wrists and on the legs, trunk, glands, penis and mucous membrane of the mouth and vagina. (For more information on this disorder, choose “Lichen Planus” as your search term in the Rare Disease Database.) | 177 | Bowenoid Papulosis |
nord_177_5 | Diagnosis of Bowenoid Papulosis | Diagnosis of Bowenoid Papulosis. | 177 | Bowenoid Papulosis |
|
nord_177_6 | Therapies of Bowenoid Papulosis | Patients with Bowenoid Papulosis should be monitored carefully. In some cases Bowenoid Papulosis may heal spontaneously (without treatment). Sexual activity should be limited in order to avoid infecting other people during the contagious stages of this disorder.Electrosurgery, cryosurgery (surgery in which the tissue is frozen with liquid nitrogen), and/or lazer surgery may be used to remove the lesions when necessary.In some milder cases the use of 5-Fluorouracil (a chemical that prevents cell division) in the form of a topical cream has been successful. | Therapies of Bowenoid Papulosis. Patients with Bowenoid Papulosis should be monitored carefully. In some cases Bowenoid Papulosis may heal spontaneously (without treatment). Sexual activity should be limited in order to avoid infecting other people during the contagious stages of this disorder.Electrosurgery, cryosurgery (surgery in which the tissue is frozen with liquid nitrogen), and/or lazer surgery may be used to remove the lesions when necessary.In some milder cases the use of 5-Fluorouracil (a chemical that prevents cell division) in the form of a topical cream has been successful. | 177 | Bowenoid Papulosis |
nord_178_0 | Overview of Branchio Oculo Facial Syndrome | Branchio-oculo-facial syndrome (BOFS) is a rare genetic disorder with defects of the head and neck that are apparent at birth (congenital) and usually diagnosed in childhood. As of 2018, fewer than 100 cases have been reported in the medical literature, although additional patients are probably followed world-wide.The diagnosis of BOFS is based on recognition of the distinctive craniofacial features. “B” refers to branchial skin defects, although a more accurate term is pharyngeal. “O” refers to various ocular (eye) anomalies. “F” refers to the various facial differences including cleft lip/palate, unusual nose, malformed nose and small teeth. Problems outside of the head and neck region include kidney defects and congenital heart defect.Additional features include low birth weight, growth delay, learning challenges, intellectual disability and mental health issues. However, detailed studies of the neuropsychologic issues have not been performed to determine a reliable frequency.Symptoms may vary from mild to severe forms. The sole pathogenic gene is TFAP2A. Although molecular genetic testing is useful to confirm the clinical diagnosis, the classic phenotype should not be confused with other syndromes. The disorder is inherited in an autosomal dominant pattern and many parent/child families are known, even if not reported in medical articles. | Overview of Branchio Oculo Facial Syndrome. Branchio-oculo-facial syndrome (BOFS) is a rare genetic disorder with defects of the head and neck that are apparent at birth (congenital) and usually diagnosed in childhood. As of 2018, fewer than 100 cases have been reported in the medical literature, although additional patients are probably followed world-wide.The diagnosis of BOFS is based on recognition of the distinctive craniofacial features. “B” refers to branchial skin defects, although a more accurate term is pharyngeal. “O” refers to various ocular (eye) anomalies. “F” refers to the various facial differences including cleft lip/palate, unusual nose, malformed nose and small teeth. Problems outside of the head and neck region include kidney defects and congenital heart defect.Additional features include low birth weight, growth delay, learning challenges, intellectual disability and mental health issues. However, detailed studies of the neuropsychologic issues have not been performed to determine a reliable frequency.Symptoms may vary from mild to severe forms. The sole pathogenic gene is TFAP2A. Although molecular genetic testing is useful to confirm the clinical diagnosis, the classic phenotype should not be confused with other syndromes. The disorder is inherited in an autosomal dominant pattern and many parent/child families are known, even if not reported in medical articles. | 178 | Branchio Oculo Facial Syndrome |
nord_178_1 | Symptoms of Branchio Oculo Facial Syndrome | Infants with BOFS may have a low birth weight and may continue to experience abnormally slow growth after birth (postnatal growth retardation).“B” refers to “branchial” skin defects, although a more accurate term is pharyngeal. The skin defects are not true hemangiomas, but unfortunately, the description as hemangiomatous has persisted. They are usually dark pink or red, may be moist, weep, or have atrophic skin. They vary in size from small defects as small as a “pit” to larger lesions which require resection and reconstructive surgery. They should not be treated with simple cauterization. Many are linear along both sides of the neck. Less commonly, they occur below or behind the ear. “O” refers to various ocular (eye) anomalies especially microphthalmia (small eyes), ptosis, strabismus, and cataracts. Blockage of the tear ducts (lacrimal duct obstruction) is common. The eyes are typically widely spaced.“F” refers to individual facial defects, which together create the impression of a recognizable facial appearance. The oral cleft can be incomplete or partial, the so-called pseudocleft lip. The philtrum is unusually wide and a ridge gives the impression it had been surgically repaired, or “healed” in utero. There is often a severe bilateral cleft lip and palate. Teeth can be small, absent or malformed. The nose is malformed with a broad bridge and flattened tip. The ears are malformed, typically low-set and posteriorly rotated. Hair may be prematurely grey. Facial asymmetry due to lower facial nerve weakness can be present. Anomalies of the thymus, ranging from absence to atypical position, occur. Skin features include subcutaneous cysts of the scalp and elsewhere. In addition to the structural differences, there can be visual impairment, hearing loss and speech disabilities. Autism spectrum disorder, congenital heart defects, and polydactyly are rare. Although cognitive ability is usually normal, there is no large study of subtler learning and behavior challenges. | Symptoms of Branchio Oculo Facial Syndrome. Infants with BOFS may have a low birth weight and may continue to experience abnormally slow growth after birth (postnatal growth retardation).“B” refers to “branchial” skin defects, although a more accurate term is pharyngeal. The skin defects are not true hemangiomas, but unfortunately, the description as hemangiomatous has persisted. They are usually dark pink or red, may be moist, weep, or have atrophic skin. They vary in size from small defects as small as a “pit” to larger lesions which require resection and reconstructive surgery. They should not be treated with simple cauterization. Many are linear along both sides of the neck. Less commonly, they occur below or behind the ear. “O” refers to various ocular (eye) anomalies especially microphthalmia (small eyes), ptosis, strabismus, and cataracts. Blockage of the tear ducts (lacrimal duct obstruction) is common. The eyes are typically widely spaced.“F” refers to individual facial defects, which together create the impression of a recognizable facial appearance. The oral cleft can be incomplete or partial, the so-called pseudocleft lip. The philtrum is unusually wide and a ridge gives the impression it had been surgically repaired, or “healed” in utero. There is often a severe bilateral cleft lip and palate. Teeth can be small, absent or malformed. The nose is malformed with a broad bridge and flattened tip. The ears are malformed, typically low-set and posteriorly rotated. Hair may be prematurely grey. Facial asymmetry due to lower facial nerve weakness can be present. Anomalies of the thymus, ranging from absence to atypical position, occur. Skin features include subcutaneous cysts of the scalp and elsewhere. In addition to the structural differences, there can be visual impairment, hearing loss and speech disabilities. Autism spectrum disorder, congenital heart defects, and polydactyly are rare. Although cognitive ability is usually normal, there is no large study of subtler learning and behavior challenges. | 178 | Branchio Oculo Facial Syndrome |
nord_178_2 | Causes of Branchio Oculo Facial Syndrome | BOFS is caused by mutations in the TFAP2A gene and follows an autosomal dominant pattern of inheritance. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.In 50-60% of individuals with BOFS, the disorder is due to a spontaneous (de novo) genetic mutation that occurs in the egg or sperm cell. In such situations, the disorder is not inherited from the parents. In some families, the parent who has very mild features is diagnosed after the child is recognized to have BOFS. There is no correlation between the type of gene mutation and the appearance of the person. However, patients who have a chromosome deletion involving TFAP2A have a slightly different appearance. | Causes of Branchio Oculo Facial Syndrome. BOFS is caused by mutations in the TFAP2A gene and follows an autosomal dominant pattern of inheritance. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.In 50-60% of individuals with BOFS, the disorder is due to a spontaneous (de novo) genetic mutation that occurs in the egg or sperm cell. In such situations, the disorder is not inherited from the parents. In some families, the parent who has very mild features is diagnosed after the child is recognized to have BOFS. There is no correlation between the type of gene mutation and the appearance of the person. However, patients who have a chromosome deletion involving TFAP2A have a slightly different appearance. | 178 | Branchio Oculo Facial Syndrome |
nord_178_3 | Affects of Branchio Oculo Facial Syndrome | BOFS is a very rare disorder that apparently affects males and females in equal numbers. Fertility does not appear to be affected since there are many affected parents and children. People vary within families and compared to other families. | Affects of Branchio Oculo Facial Syndrome. BOFS is a very rare disorder that apparently affects males and females in equal numbers. Fertility does not appear to be affected since there are many affected parents and children. People vary within families and compared to other families. | 178 | Branchio Oculo Facial Syndrome |
nord_178_4 | Related disorders of Branchio Oculo Facial Syndrome | Cleft lip and cleft palate are among the most common congenital malformations. Clefts of the lip or palate result when the development of the face or mouth in an embryo is incomplete. Children born with this condition have an opening in their upper lip or the roof of the mouth. The defect ranges from a slight notch-like deformity to complete clefts of the lip and palate. Symptoms may include flattened nose and splayed lips, nasal quality voice, speech defects, deformed maxillary arch and an excessive number or absence of teeth. The features of branchio-oculo-facial syndrome are so distinctive that is should not be confused with other syndromes when the evaluation is performed by a skilled dysmorphologist (medical geneticist).Branchio-oto-renal (BOR) syndrome is a rare disorder that follows an autosomal dominant pattern of inheritance. This disorder is characterized by pits or ear tags in front of the outer ear, abnormal passages from the throat to the outside surface of the neck (branchial fistulas), branchial cysts, hearing loss and/or kidney (renal) abnormalities. BOR should not be confused with BOFS. (For more information on this disorder, choose “branchio-oto-renal” as your search term in the Rare Disease Database.) | Related disorders of Branchio Oculo Facial Syndrome. Cleft lip and cleft palate are among the most common congenital malformations. Clefts of the lip or palate result when the development of the face or mouth in an embryo is incomplete. Children born with this condition have an opening in their upper lip or the roof of the mouth. The defect ranges from a slight notch-like deformity to complete clefts of the lip and palate. Symptoms may include flattened nose and splayed lips, nasal quality voice, speech defects, deformed maxillary arch and an excessive number or absence of teeth. The features of branchio-oculo-facial syndrome are so distinctive that is should not be confused with other syndromes when the evaluation is performed by a skilled dysmorphologist (medical geneticist).Branchio-oto-renal (BOR) syndrome is a rare disorder that follows an autosomal dominant pattern of inheritance. This disorder is characterized by pits or ear tags in front of the outer ear, abnormal passages from the throat to the outside surface of the neck (branchial fistulas), branchial cysts, hearing loss and/or kidney (renal) abnormalities. BOR should not be confused with BOFS. (For more information on this disorder, choose “branchio-oto-renal” as your search term in the Rare Disease Database.) | 178 | Branchio Oculo Facial Syndrome |
nord_178_5 | Diagnosis of Branchio Oculo Facial Syndrome | The diagnostic criteria have been based on the hallmark features that include a branchial skin defect, ocular anomaly, and facial anomalies (B, O, F). If all three of the hallmark abnormalities are present, it would be characterized as branchio-oculo-facial syndrome. If two of the three hallmark defects are present, plus thymus tissue found in an abnormal location (ectopic thymus) or if a parent or child is affected, it would be characterized as branchio-oculo-facial syndrome.TFAP2A is currently the only gene associated with BOFS. Molecular genetic testing for mutations in the TFAP2A gene is available to confirm the diagnosis. | Diagnosis of Branchio Oculo Facial Syndrome. The diagnostic criteria have been based on the hallmark features that include a branchial skin defect, ocular anomaly, and facial anomalies (B, O, F). If all three of the hallmark abnormalities are present, it would be characterized as branchio-oculo-facial syndrome. If two of the three hallmark defects are present, plus thymus tissue found in an abnormal location (ectopic thymus) or if a parent or child is affected, it would be characterized as branchio-oculo-facial syndrome.TFAP2A is currently the only gene associated with BOFS. Molecular genetic testing for mutations in the TFAP2A gene is available to confirm the diagnosis. | 178 | Branchio Oculo Facial Syndrome |
nord_178_6 | Therapies of Branchio Oculo Facial Syndrome | Treatment
The care and management of people with BOFS is aimed at the specific signs and symptoms, and should be carried out by a multi-specialty team who are skilled in craniofacial disorders. A medical geneticist usually makes the clinical diagnosis, which is confirmed with molecular testing. Reconstructive surgery is needed to repair facial deformities and obstructed nasal ducts. Importantly, the skin defects should not be treated with simple cauterization. Strabismus (“crossed eyes”) may be corrected by surgery. In addition, people with BOFS should be managed by an ophthalmologist, otolaryngologist, dentist, and speech therapist. Depending on the person’s issues, there may be a need for a neuropsychologic or developmental evaluation and mental health support.Genetic counseling is recommended for the patients and their families for reproductive health. | Therapies of Branchio Oculo Facial Syndrome. Treatment
The care and management of people with BOFS is aimed at the specific signs and symptoms, and should be carried out by a multi-specialty team who are skilled in craniofacial disorders. A medical geneticist usually makes the clinical diagnosis, which is confirmed with molecular testing. Reconstructive surgery is needed to repair facial deformities and obstructed nasal ducts. Importantly, the skin defects should not be treated with simple cauterization. Strabismus (“crossed eyes”) may be corrected by surgery. In addition, people with BOFS should be managed by an ophthalmologist, otolaryngologist, dentist, and speech therapist. Depending on the person’s issues, there may be a need for a neuropsychologic or developmental evaluation and mental health support.Genetic counseling is recommended for the patients and their families for reproductive health. | 178 | Branchio Oculo Facial Syndrome |
nord_179_0 | Overview of Branchiootorenal Spectrum Disorders | SummaryBranchiootorenal spectrum disorders are inherited as autosomal dominant genetic conditions that can vary greatly from one person to another, even in members of the same family.Branchiootorenal (BOR) syndrome is characterized by pits or ear tags in front of the outer ear (preauricular pits), abnormal passages from the throat to the outside surface of the neck (branchial fistulas), branchial cysts, malformations of the outer, middle and inner ear, hearing loss and kidney (renal) abnormalities.Individuals with branchiootic (BOS) syndrome have the ear and hearing abnormalities but kidneys are not affected. | Overview of Branchiootorenal Spectrum Disorders. SummaryBranchiootorenal spectrum disorders are inherited as autosomal dominant genetic conditions that can vary greatly from one person to another, even in members of the same family.Branchiootorenal (BOR) syndrome is characterized by pits or ear tags in front of the outer ear (preauricular pits), abnormal passages from the throat to the outside surface of the neck (branchial fistulas), branchial cysts, malformations of the outer, middle and inner ear, hearing loss and kidney (renal) abnormalities.Individuals with branchiootic (BOS) syndrome have the ear and hearing abnormalities but kidneys are not affected. | 179 | Branchiootorenal Spectrum Disorders |
nord_179_1 | Symptoms of Branchiootorenal Spectrum Disorders | Most people with BOR/BOS syndrome have some type of hearing loss. The hearing loss may be due to nerve damage (sensory), blockage of sound waves (conductive), or both. The degree of hearing loss varies from mild to profound, and can differ between the two ears. The deafness can be stable or progressive. Other abnormalities related to the ear that may be present include pits or outgrowths of cartilage (tags) in front of the outer ear; a cupped or small outer ear; and/or a narrow or upward slanted outer ear canal.An abnormal passage from the throat to the outside surface of the neck (branchial fistula), and/or an opening on the side of the neck, or a mass that can be felt under the muscles on the side of the neck is often present.The kidney abnormalities associated with BOR syndrome range from mild to very severe. In milder cases, the kidney may be unusually shaped. In more severe cases, there may be duplication of the collecting system of the kidneys and/or absence or failure of one or both of the kidneys to form.Other abnormalities that have been found in association with BOR syndrome are narrowing of the tear duct in the eyes interfering with the normal flow of tears; a long narrow face; cleft palate; paralysis of certain muscles in the face; and/or a deep overbite. | Symptoms of Branchiootorenal Spectrum Disorders. Most people with BOR/BOS syndrome have some type of hearing loss. The hearing loss may be due to nerve damage (sensory), blockage of sound waves (conductive), or both. The degree of hearing loss varies from mild to profound, and can differ between the two ears. The deafness can be stable or progressive. Other abnormalities related to the ear that may be present include pits or outgrowths of cartilage (tags) in front of the outer ear; a cupped or small outer ear; and/or a narrow or upward slanted outer ear canal.An abnormal passage from the throat to the outside surface of the neck (branchial fistula), and/or an opening on the side of the neck, or a mass that can be felt under the muscles on the side of the neck is often present.The kidney abnormalities associated with BOR syndrome range from mild to very severe. In milder cases, the kidney may be unusually shaped. In more severe cases, there may be duplication of the collecting system of the kidneys and/or absence or failure of one or both of the kidneys to form.Other abnormalities that have been found in association with BOR syndrome are narrowing of the tear duct in the eyes interfering with the normal flow of tears; a long narrow face; cleft palate; paralysis of certain muscles in the face; and/or a deep overbite. | 179 | Branchiootorenal Spectrum Disorders |
nord_179_2 | Causes of Branchiootorenal Spectrum Disorders | BOR/BOS syndrome is caused by mutations in the EYA1(BOR1, BOS2), SIX5 (BOR2), and SIX1 (BOR3, BOS3) genes.BOR/BOS syndrome is inherited as an autosomal dominant disorder. Dominant genetic disorders occur when one copy of a gene is abnormal and this abnormal copy results in the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females. | Causes of Branchiootorenal Spectrum Disorders. BOR/BOS syndrome is caused by mutations in the EYA1(BOR1, BOS2), SIX5 (BOR2), and SIX1 (BOR3, BOS3) genes.BOR/BOS syndrome is inherited as an autosomal dominant disorder. Dominant genetic disorders occur when one copy of a gene is abnormal and this abnormal copy results in the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females. | 179 | Branchiootorenal Spectrum Disorders |
nord_179_3 | Affects of Branchiootorenal Spectrum Disorders | BOR/BOS syndrome affects males and females in equal numbers. It is estimated that 1 in 40,000 people have this disorder. BOR/BOS syndrome is found in approximately 2 to 3 percent of children with profound deafness. | Affects of Branchiootorenal Spectrum Disorders. BOR/BOS syndrome affects males and females in equal numbers. It is estimated that 1 in 40,000 people have this disorder. BOR/BOS syndrome is found in approximately 2 to 3 percent of children with profound deafness. | 179 | Branchiootorenal Spectrum Disorders |
nord_179_4 | Related disorders of Branchiootorenal Spectrum Disorders | Symptoms of the following disorders can be similar to those of branchiootorenal spectrum disorders. Comparisons may be useful for a differential diagnosis:Branchio-oculo-facial syndrome is a rare disorder inherited as an autosomal dominant trait. Major symptoms may include abnormal sinuses, growth delay, premature aging and an unusual facial appearance. Other features of this disorder may include low birth weight; graying of the hair; a highly arched palate; abnormalities of the teeth; and/or cysts under the skin of the scalp. (For more information on this disorder, choose “branchio” as your search term in the Rare Disease Database.)Oculo-auriculo-vertebral spectrum is a group of rare congenital disorders characterized by a broad spectrum of physical features that may involve the cheekbones, jaw, mouth, ears, eyes, and bones of the spinal column. Often, one side of the body is affected more than the other. (For more information on this disorder, choose “oculo” as your search term in the Rare Disease Database.)Treacher Collins syndrome is a rare disorder characterized by distinctive abnormalities of the head and facial area due to underdevelopment of certain portions of the skull. (For more information on this disorder, choose “Treacher” as your search term in the Rare Disease Database.)Towns Brocks syndrome is a rare genetic disorder characterized by hearing loss or deafness and the absence of an anal opening, in association with hand, foot, or ear abnormalities. (For more information on this disorder, choose “Towns” as your search term in the Rare Disease Database.) | Related disorders of Branchiootorenal Spectrum Disorders. Symptoms of the following disorders can be similar to those of branchiootorenal spectrum disorders. Comparisons may be useful for a differential diagnosis:Branchio-oculo-facial syndrome is a rare disorder inherited as an autosomal dominant trait. Major symptoms may include abnormal sinuses, growth delay, premature aging and an unusual facial appearance. Other features of this disorder may include low birth weight; graying of the hair; a highly arched palate; abnormalities of the teeth; and/or cysts under the skin of the scalp. (For more information on this disorder, choose “branchio” as your search term in the Rare Disease Database.)Oculo-auriculo-vertebral spectrum is a group of rare congenital disorders characterized by a broad spectrum of physical features that may involve the cheekbones, jaw, mouth, ears, eyes, and bones of the spinal column. Often, one side of the body is affected more than the other. (For more information on this disorder, choose “oculo” as your search term in the Rare Disease Database.)Treacher Collins syndrome is a rare disorder characterized by distinctive abnormalities of the head and facial area due to underdevelopment of certain portions of the skull. (For more information on this disorder, choose “Treacher” as your search term in the Rare Disease Database.)Towns Brocks syndrome is a rare genetic disorder characterized by hearing loss or deafness and the absence of an anal opening, in association with hand, foot, or ear abnormalities. (For more information on this disorder, choose “Towns” as your search term in the Rare Disease Database.) | 179 | Branchiootorenal Spectrum Disorders |
nord_179_5 | Diagnosis of Branchiootorenal Spectrum Disorders | The diagnosis of BOR/BOS syndrome is made when at least two of five features (branchial defects, hearing loss, preauricular pits, abnormalities of the part of the ear that projects from the head (pinna), and renal malformations) are present in an individual with two or more affected family members, or three features are present in an individual with no affected family members.Evaluation of hearing function (audiologic assessment), and imaging (CT or computerized tomography) of the temporal bone to identify the middle and inner ear defects, should be performed. Renal abnormality is investigated by urinalysis, renal function tests, and imaging studies such as renal ultrasonography and CT.Molecular genetic testing for mutations in the EYA1(BOR1, BOS2), SIX5 (BOR2), and SIX1 (BOR3, BOS3) genes is available to confirm a clinical diagnosis of BOR/BOS syndrome. EYA1 mutations are be found in about 40% of people with BOR/BOS syndrome. A SIX1 mutation is estimated to be found in 4% of people with BOR/BOS syndrome and a SIX5 mutation is present in about 5% of people with BOR/BOS syndrome. | Diagnosis of Branchiootorenal Spectrum Disorders. The diagnosis of BOR/BOS syndrome is made when at least two of five features (branchial defects, hearing loss, preauricular pits, abnormalities of the part of the ear that projects from the head (pinna), and renal malformations) are present in an individual with two or more affected family members, or three features are present in an individual with no affected family members.Evaluation of hearing function (audiologic assessment), and imaging (CT or computerized tomography) of the temporal bone to identify the middle and inner ear defects, should be performed. Renal abnormality is investigated by urinalysis, renal function tests, and imaging studies such as renal ultrasonography and CT.Molecular genetic testing for mutations in the EYA1(BOR1, BOS2), SIX5 (BOR2), and SIX1 (BOR3, BOS3) genes is available to confirm a clinical diagnosis of BOR/BOS syndrome. EYA1 mutations are be found in about 40% of people with BOR/BOS syndrome. A SIX1 mutation is estimated to be found in 4% of people with BOR/BOS syndrome and a SIX5 mutation is present in about 5% of people with BOR/BOS syndrome. | 179 | Branchiootorenal Spectrum Disorders |
nord_179_6 | Therapies of Branchiootorenal Spectrum Disorders | Treatment
The child with hearing impairment should undergo appropriate rehabilitation measures with annual hearing testing (audiometry). Medical attention should be sought promptly for any episode of inflammation of the middle ear (otitis media). Patients with BOR/BOS syndrome may benefit from hearing aids. When structural defects of the ear are present, surgery may be beneficial.Branchial cleft deformities have the potential to become easily infected and may require surgical treatment such as excision of the branchial cleft cyst or fistulae. Antibiotics can be given if the cyst or sinuses are infected. Also, a physician specializing in kidney problems (nephrologist) should closely monitor any renal impairment. Surgical repair may be undertaken for correctable defects. Severe kidney problems may warrant dialysis or kidney transplantation.Semiannual examination for hearing impairment is recommended to assess stability of hearing loss. Semiannual examination for renal function is recommended to prevent progression of worsening of the kidneys. Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive. | Therapies of Branchiootorenal Spectrum Disorders. Treatment
The child with hearing impairment should undergo appropriate rehabilitation measures with annual hearing testing (audiometry). Medical attention should be sought promptly for any episode of inflammation of the middle ear (otitis media). Patients with BOR/BOS syndrome may benefit from hearing aids. When structural defects of the ear are present, surgery may be beneficial.Branchial cleft deformities have the potential to become easily infected and may require surgical treatment such as excision of the branchial cleft cyst or fistulae. Antibiotics can be given if the cyst or sinuses are infected. Also, a physician specializing in kidney problems (nephrologist) should closely monitor any renal impairment. Surgical repair may be undertaken for correctable defects. Severe kidney problems may warrant dialysis or kidney transplantation.Semiannual examination for hearing impairment is recommended to assess stability of hearing loss. Semiannual examination for renal function is recommended to prevent progression of worsening of the kidneys. Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive. | 179 | Branchiootorenal Spectrum Disorders |
nord_180_0 | Overview of Bronchopulmonary Dysplasia | Bronchopulmonary dysplasia (BPD) is a chronic respiratory disease that most often occurs in low-birthweight or premature infants who have received supplemental oxygen or have spent long periods of time on a breathing machine (mechanical ventilation), such as infants who have acute respiratory distress syndrome. BPD can also occur in older infants who experience abnormal lung development or some infants that have had an infection before birth (antenatal infection) or placental abnormalities (such as preeclampsia). Antenatal steroid treatment prior to preterm birth and early treatment with surfactant have reduced the need for high levels of respiratory support after birth.Affected infants may have rapid, labored breathing and bluish discoloration of the skin due to low levels of oxygen in the blood (cyanosis). Infants are not born with BPD and the condition results from damage to the lungs due to the extremely fragile nature of the underdeveloped, immature lungs. Although most infants fully recover from BPD, some have sustained abnormalities of lung function and structure throughout adolescence and into adulthood. However, the condition can cause serious complications during infancy and often requires hospitalization and intensive medical care, especially during the first 2 years after birth.The survival of low-birth-weight infants has improved steadily over the past few decades. Many infants diagnosed with BPD today are born at far earlier gestational ages than in the past. Researchers think that these cases of BPD are less associated with injury and repair to the lungs and more likely represent an underlying disruption or abnormality affecting the development of the lungs. These infants may require chronic oxygen supplementation even without developing acute respiratory distress syndrome. These cases are sometimes referred to as “new” BPD. | Overview of Bronchopulmonary Dysplasia. Bronchopulmonary dysplasia (BPD) is a chronic respiratory disease that most often occurs in low-birthweight or premature infants who have received supplemental oxygen or have spent long periods of time on a breathing machine (mechanical ventilation), such as infants who have acute respiratory distress syndrome. BPD can also occur in older infants who experience abnormal lung development or some infants that have had an infection before birth (antenatal infection) or placental abnormalities (such as preeclampsia). Antenatal steroid treatment prior to preterm birth and early treatment with surfactant have reduced the need for high levels of respiratory support after birth.Affected infants may have rapid, labored breathing and bluish discoloration of the skin due to low levels of oxygen in the blood (cyanosis). Infants are not born with BPD and the condition results from damage to the lungs due to the extremely fragile nature of the underdeveloped, immature lungs. Although most infants fully recover from BPD, some have sustained abnormalities of lung function and structure throughout adolescence and into adulthood. However, the condition can cause serious complications during infancy and often requires hospitalization and intensive medical care, especially during the first 2 years after birth.The survival of low-birth-weight infants has improved steadily over the past few decades. Many infants diagnosed with BPD today are born at far earlier gestational ages than in the past. Researchers think that these cases of BPD are less associated with injury and repair to the lungs and more likely represent an underlying disruption or abnormality affecting the development of the lungs. These infants may require chronic oxygen supplementation even without developing acute respiratory distress syndrome. These cases are sometimes referred to as “new” BPD. | 180 | Bronchopulmonary Dysplasia |
nord_180_1 | Symptoms of Bronchopulmonary Dysplasia | Some infants who develop BPD have a condition called respiratory distress syndrome (RSD), which is a breathing disorder that affects some premature infants immediately after birth. It is characterized by rapid, shallow breathing and leads to the need for oxygen and respiratory support in the first days of life. Affected infants may also exhibit fast breathing with signs of shortness of breath, a chronic cough or wheezing, flaring of the nostrils when breathing and bluish discoloration of the skin due to low levels of oxygen in the blood (cyanosis). Some infants may grunt when breathing out (exhaling). Additional symptoms may include abnormally fast breathing (tachypnea), wheezing or a “crackling” or “rattling” sound that is heard in the lungs when inhaling.Most infants with BPD recover fully and damage to the lungs progressively improves with growth. In a few rare cases, BPD can cause life-threatening complications during infancy such as high blood pressure of the main artery of the lungs (pulmonary hypertension) and failure of the right side of the heart (cor pulmonale).As affected infants and children grow, they may be at a greater risk than the general population of developing asthma, respiratory infections or viral pneumonia. | Symptoms of Bronchopulmonary Dysplasia. Some infants who develop BPD have a condition called respiratory distress syndrome (RSD), which is a breathing disorder that affects some premature infants immediately after birth. It is characterized by rapid, shallow breathing and leads to the need for oxygen and respiratory support in the first days of life. Affected infants may also exhibit fast breathing with signs of shortness of breath, a chronic cough or wheezing, flaring of the nostrils when breathing and bluish discoloration of the skin due to low levels of oxygen in the blood (cyanosis). Some infants may grunt when breathing out (exhaling). Additional symptoms may include abnormally fast breathing (tachypnea), wheezing or a “crackling” or “rattling” sound that is heard in the lungs when inhaling.Most infants with BPD recover fully and damage to the lungs progressively improves with growth. In a few rare cases, BPD can cause life-threatening complications during infancy such as high blood pressure of the main artery of the lungs (pulmonary hypertension) and failure of the right side of the heart (cor pulmonale).As affected infants and children grow, they may be at a greater risk than the general population of developing asthma, respiratory infections or viral pneumonia. | 180 | Bronchopulmonary Dysplasia |
nord_180_2 | Causes of Bronchopulmonary Dysplasia | BPD is caused by damage to the delicate tissue of the lungs, usually related to the degree of prematurity. This damage most often occurs in infants who have required extended treatment with supplemental oxygen or breathing assistance with a machine (mechanical ventilation) such as infants who are born prematurely and have acute respiratory distress syndrome.When infants receive mechanical ventilation to help support their breathing, a tube is inserted through the windpipe and the machine pushes air into the lungs, which are often underdeveloped in premature infants. In some cases, the levels of oxygen required for an affected infant to survive are higher than normally would be found in the air we breathe. Over time, the constant pressure from the ventilator and the excess oxygen levels can damage the delicate tissues of an infant’s lungs causing inflammation and scarring.Although many cases of BPD are associated with mechanical ventilation or excess oxygen levels, BPD can arise from other conditions that affect the development of the lungs such as infection that occurs before birth (antenatal infection) or other maternal complications such as smoking, drug use, placental abnormalities (preeclampsia) and inflammation of the fetal membranes (chorioamnionitis). In rare cases, some older infants who are born closer to term gestation can have abnormal lung development and develop BPD.Infants who have patent ductus arteriosus are at a greater risk than other infants of developing BPD. Patent ductus arteriosus (PDA) is a large vascular structure that is open in every fetus before birth and usually closes shortly after birth in babies who are not born prematurely. In premature infants, however, the PDA remains open after birth, and can be a passage between the blood vessel that leads to the lungs (the pulmonary artery) and the major artery of the body (the aorta). As the PDA fails to close after birth, the higher flow of blood into the lungs may increase the need for higher levels of supplemental oxygen or support with mechanical ventilation. If open too long, the PDA may contribute to the risk for BPD and may require specific medications or other treatments to close the PDA.Many infants now diagnosed with BPD are born at an earlier gestational age than in the past. These cases are sometimes referred to as “new BPD.” These cases generally have less inflammation and scarring than in classic BPD. These cases are believed to be less associated with mechanical ventilation and damage to the lungs and more likely due to disrupted or abnormal lung development. Researchers theorize that the formation of new blood vessels (angiogenesis) is abnormal or disrupted in infants with “new” BPD. Lung angiogenesis plays a key role in the development of the lung’s alveoli, which are thin, capillary-rich sacs in the lungs where the exchange of oxygen and carbon dioxide takes place. Capillaries are very small blood vessels. Researchers think that disrupted lung angiogenesis impairs the proper development of the alveoli, which contributes to the development of BPD in some cases.The exact, underlying mechanisms that cause classic or new BPD are complex and not fully understood. The causes of BPD in one infant may be different from the causes in another. Most likely, multiple different environmental and genetic factors all play a role in the development of the disorder. Some individuals may have a genetic predisposition to developing BPD. A person who is genetically predisposed to a disorder carries a gene variant (or variants) for the disease, but it may not be expressed unless it is triggered or “activated” under certain circumstances, such as due to particular environmental factors (multifactorial inheritance). More research is necessary to determine the exact causes and underlying mechanisms involved in the development of the BPD. | Causes of Bronchopulmonary Dysplasia. BPD is caused by damage to the delicate tissue of the lungs, usually related to the degree of prematurity. This damage most often occurs in infants who have required extended treatment with supplemental oxygen or breathing assistance with a machine (mechanical ventilation) such as infants who are born prematurely and have acute respiratory distress syndrome.When infants receive mechanical ventilation to help support their breathing, a tube is inserted through the windpipe and the machine pushes air into the lungs, which are often underdeveloped in premature infants. In some cases, the levels of oxygen required for an affected infant to survive are higher than normally would be found in the air we breathe. Over time, the constant pressure from the ventilator and the excess oxygen levels can damage the delicate tissues of an infant’s lungs causing inflammation and scarring.Although many cases of BPD are associated with mechanical ventilation or excess oxygen levels, BPD can arise from other conditions that affect the development of the lungs such as infection that occurs before birth (antenatal infection) or other maternal complications such as smoking, drug use, placental abnormalities (preeclampsia) and inflammation of the fetal membranes (chorioamnionitis). In rare cases, some older infants who are born closer to term gestation can have abnormal lung development and develop BPD.Infants who have patent ductus arteriosus are at a greater risk than other infants of developing BPD. Patent ductus arteriosus (PDA) is a large vascular structure that is open in every fetus before birth and usually closes shortly after birth in babies who are not born prematurely. In premature infants, however, the PDA remains open after birth, and can be a passage between the blood vessel that leads to the lungs (the pulmonary artery) and the major artery of the body (the aorta). As the PDA fails to close after birth, the higher flow of blood into the lungs may increase the need for higher levels of supplemental oxygen or support with mechanical ventilation. If open too long, the PDA may contribute to the risk for BPD and may require specific medications or other treatments to close the PDA.Many infants now diagnosed with BPD are born at an earlier gestational age than in the past. These cases are sometimes referred to as “new BPD.” These cases generally have less inflammation and scarring than in classic BPD. These cases are believed to be less associated with mechanical ventilation and damage to the lungs and more likely due to disrupted or abnormal lung development. Researchers theorize that the formation of new blood vessels (angiogenesis) is abnormal or disrupted in infants with “new” BPD. Lung angiogenesis plays a key role in the development of the lung’s alveoli, which are thin, capillary-rich sacs in the lungs where the exchange of oxygen and carbon dioxide takes place. Capillaries are very small blood vessels. Researchers think that disrupted lung angiogenesis impairs the proper development of the alveoli, which contributes to the development of BPD in some cases.The exact, underlying mechanisms that cause classic or new BPD are complex and not fully understood. The causes of BPD in one infant may be different from the causes in another. Most likely, multiple different environmental and genetic factors all play a role in the development of the disorder. Some individuals may have a genetic predisposition to developing BPD. A person who is genetically predisposed to a disorder carries a gene variant (or variants) for the disease, but it may not be expressed unless it is triggered or “activated” under certain circumstances, such as due to particular environmental factors (multifactorial inheritance). More research is necessary to determine the exact causes and underlying mechanisms involved in the development of the BPD. | 180 | Bronchopulmonary Dysplasia |
nord_180_3 | Affects of Bronchopulmonary Dysplasia | Bronchopulmonary dysplasia can affect both males and females. The exact incidence of BPD is unknown but is highest in infants born with extreme prematurity. The National Institutes of Health estimates that 10,000-15,000 babies born in the United States develop BPD each year. The risk of developing BPD increases the earlier a baby is born (gestational age) and the lower the birth weight. Infants born weighing less than 2.2 pounds are at the greatest risk for developing BPD. The number of cases of BPD has been increasing, most likely because of modern advances in medicine, which have enabled doctors to keep more low birth weight, premature babies alive than in the past. BPD was first described in the medical literature in 1967. | Affects of Bronchopulmonary Dysplasia. Bronchopulmonary dysplasia can affect both males and females. The exact incidence of BPD is unknown but is highest in infants born with extreme prematurity. The National Institutes of Health estimates that 10,000-15,000 babies born in the United States develop BPD each year. The risk of developing BPD increases the earlier a baby is born (gestational age) and the lower the birth weight. Infants born weighing less than 2.2 pounds are at the greatest risk for developing BPD. The number of cases of BPD has been increasing, most likely because of modern advances in medicine, which have enabled doctors to keep more low birth weight, premature babies alive than in the past. BPD was first described in the medical literature in 1967. | 180 | Bronchopulmonary Dysplasia |
nord_180_4 | Related disorders of Bronchopulmonary Dysplasia | Related disorders of Bronchopulmonary Dysplasia. | 180 | Bronchopulmonary Dysplasia |
|
nord_180_5 | Diagnosis of Bronchopulmonary Dysplasia | A diagnosis of BPD is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including blood tests, chest x-rays and echocardiograms. Blood tests may show low levels of oxygen in the blood that require treatment with higher levels of oxygen or respiratory support. Chest x-rays may show distinctive changes in the lungs including abnormal development of the lungs. An echocardiogram is used to rule out other conditions that can cause breathing difficulties in infants such as congenital heart defects and helps show how the heart is working and the presence of a large PDA. During an echocardiogram, sound waves are directed toward the heart, enabling doctors to study cardiac function and motion. | Diagnosis of Bronchopulmonary Dysplasia. A diagnosis of BPD is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including blood tests, chest x-rays and echocardiograms. Blood tests may show low levels of oxygen in the blood that require treatment with higher levels of oxygen or respiratory support. Chest x-rays may show distinctive changes in the lungs including abnormal development of the lungs. An echocardiogram is used to rule out other conditions that can cause breathing difficulties in infants such as congenital heart defects and helps show how the heart is working and the presence of a large PDA. During an echocardiogram, sound waves are directed toward the heart, enabling doctors to study cardiac function and motion. | 180 | Bronchopulmonary Dysplasia |
nord_180_6 | Therapies of Bronchopulmonary Dysplasia | Prevention
The lungs of infants with respiratory distress syndrome and underdeveloped and cannot produce enough surfactant, which is a substance secreted by the tiny air sacs (alveoli) of the lungs that serves to reduce the tension of pulmonary fluids. These infants may be treated with surfactant-replacement therapy, which may be able to prevent the development of BPD in some cases. Most importantly, maternal steroid treatments prior to birth reduce the risk for BPD in preterm infants.Infants with respiratory distress syndrome are also treated with mechanical ventilation and oxygen supplementation. Continued medical advances, including the use of surfactant, different types of breathing machines and earlier nutrition have lessened the risk of damage to infants’ lungs during these therapies and lowered the risk of these infants’ developing BPD.Treatment
The treatment for infants with BPD is geared toward minimizing damage to the lungs and providing enough support to allow an affected infant’s lungs heal and grow. The specific therapies used may change as an affected infant grows and the clinical picture changes.Newborns with BPD initially require care in the hospital. Treatment may include mechanical ventilation. Ventilators are only used when necessary to help sustain effective breathing and oxygen for the baby and affected infants are taken off the breathing machine as early as possible but only when the infant has clearly shown the ability to breathe effectively and without distress. Many infants still require supplemental oxygen after being taken off mechanical ventilation, and the amount of oxygen is progressively reduced by close monitoring of the body’s oxygen level by serial measurements with a pulse oximeter. Proper nutritional management is also necessary to ensure the proper growth and development of the lungs. Some affected infants may require the insertion of a gastrointestinal (GI) tube directly into the stomach to ensure a sufficient intake of calories and nutrients. Because infants with BPD are at risk for the accumulation of excess fluid in the lungs, daily fluid intake may be monitored and adjusted.Infants with BPD may receive different medications including bronchodilators, diuretics and antibiotics. Bronchodilators are medications that widen the airway tubes and improve the flow of air through the lungs. Diuretics are medications that reduce the amount of water in the body and may be administered to help remove excess fluid in the lungs. Antibiotics are used to help control infections and prevent pneumonia. In addition, intermittent use of steroids may reduce lung inflammation and congestion, reducing the need for high levels of respiratory support and oxygen. However, early and high doses of steroids may have adverse effects on neurocognitive and developmental outcomes. As a result, steroids are used selectively later in the clinical course, and for shorter periods of time.Infants with BPD may spend several weeks or even months in the hospital, depending on the rate of improvement in lung function as well as other medical problems that may be present. In most cases, lung function and development gradually improve, although it is often a slow process. After leaving the hospital, infants require proper nutrition, should avoid cigarette smoke and should receive regular follow up checkups from their pediatrician. Some infants may require supplemental oxygen, nutritional supplementation and ongoing use of other medicines after returning home. After discharge to home, babies with BPD are often seen frequently by their healthcare provider to closely monitor progress related to lung disease, growth and nutrition, vaccinations, development and for general pediatric health care. Infants with BPD remain at a greater risk of developing respiratory infections and pneumonia than the general population. They should avoid individuals who have upper respiratory infections. In some cases, affected infants may receive preventive therapy with palivizumab, an antibody that protects against respiratory syncytial virus (RSV) infection. RSV is a common and contagious winter infection that can potentially cause pneumonia. | Therapies of Bronchopulmonary Dysplasia. Prevention
The lungs of infants with respiratory distress syndrome and underdeveloped and cannot produce enough surfactant, which is a substance secreted by the tiny air sacs (alveoli) of the lungs that serves to reduce the tension of pulmonary fluids. These infants may be treated with surfactant-replacement therapy, which may be able to prevent the development of BPD in some cases. Most importantly, maternal steroid treatments prior to birth reduce the risk for BPD in preterm infants.Infants with respiratory distress syndrome are also treated with mechanical ventilation and oxygen supplementation. Continued medical advances, including the use of surfactant, different types of breathing machines and earlier nutrition have lessened the risk of damage to infants’ lungs during these therapies and lowered the risk of these infants’ developing BPD.Treatment
The treatment for infants with BPD is geared toward minimizing damage to the lungs and providing enough support to allow an affected infant’s lungs heal and grow. The specific therapies used may change as an affected infant grows and the clinical picture changes.Newborns with BPD initially require care in the hospital. Treatment may include mechanical ventilation. Ventilators are only used when necessary to help sustain effective breathing and oxygen for the baby and affected infants are taken off the breathing machine as early as possible but only when the infant has clearly shown the ability to breathe effectively and without distress. Many infants still require supplemental oxygen after being taken off mechanical ventilation, and the amount of oxygen is progressively reduced by close monitoring of the body’s oxygen level by serial measurements with a pulse oximeter. Proper nutritional management is also necessary to ensure the proper growth and development of the lungs. Some affected infants may require the insertion of a gastrointestinal (GI) tube directly into the stomach to ensure a sufficient intake of calories and nutrients. Because infants with BPD are at risk for the accumulation of excess fluid in the lungs, daily fluid intake may be monitored and adjusted.Infants with BPD may receive different medications including bronchodilators, diuretics and antibiotics. Bronchodilators are medications that widen the airway tubes and improve the flow of air through the lungs. Diuretics are medications that reduce the amount of water in the body and may be administered to help remove excess fluid in the lungs. Antibiotics are used to help control infections and prevent pneumonia. In addition, intermittent use of steroids may reduce lung inflammation and congestion, reducing the need for high levels of respiratory support and oxygen. However, early and high doses of steroids may have adverse effects on neurocognitive and developmental outcomes. As a result, steroids are used selectively later in the clinical course, and for shorter periods of time.Infants with BPD may spend several weeks or even months in the hospital, depending on the rate of improvement in lung function as well as other medical problems that may be present. In most cases, lung function and development gradually improve, although it is often a slow process. After leaving the hospital, infants require proper nutrition, should avoid cigarette smoke and should receive regular follow up checkups from their pediatrician. Some infants may require supplemental oxygen, nutritional supplementation and ongoing use of other medicines after returning home. After discharge to home, babies with BPD are often seen frequently by their healthcare provider to closely monitor progress related to lung disease, growth and nutrition, vaccinations, development and for general pediatric health care. Infants with BPD remain at a greater risk of developing respiratory infections and pneumonia than the general population. They should avoid individuals who have upper respiratory infections. In some cases, affected infants may receive preventive therapy with palivizumab, an antibody that protects against respiratory syncytial virus (RSV) infection. RSV is a common and contagious winter infection that can potentially cause pneumonia. | 180 | Bronchopulmonary Dysplasia |
nord_181_0 | Overview of Brown Séquard Syndrome | Brown-Séquard syndrome is a rare spinal disorder that results from an injury to one side of the spinal cord in which the spinal cord is damaged but is not severed completely. It is usually caused by an injury to the spine in the region of the neck or back. In many cases, affected individuals have received some type of puncture wound in the neck or in the back that damages the spine and causes symptoms to appear.Characteristically, the affected person loses the sense of touch, vibrations and/or position in three dimensions below the level of the injury (hemiparalysis or asymmetric paresis). The sensory loss is particularly strong on the same side (ipsilateral) as the injury to the spine. These sensations are accompanied by a loss of the sense of pain and of temperature (hypalgesia) on the side of the body opposite (contralateral) to the side at which the injury was sustained. | Overview of Brown Séquard Syndrome. Brown-Séquard syndrome is a rare spinal disorder that results from an injury to one side of the spinal cord in which the spinal cord is damaged but is not severed completely. It is usually caused by an injury to the spine in the region of the neck or back. In many cases, affected individuals have received some type of puncture wound in the neck or in the back that damages the spine and causes symptoms to appear.Characteristically, the affected person loses the sense of touch, vibrations and/or position in three dimensions below the level of the injury (hemiparalysis or asymmetric paresis). The sensory loss is particularly strong on the same side (ipsilateral) as the injury to the spine. These sensations are accompanied by a loss of the sense of pain and of temperature (hypalgesia) on the side of the body opposite (contralateral) to the side at which the injury was sustained. | 181 | Brown Séquard Syndrome |
nord_181_1 | Symptoms of Brown Séquard Syndrome | Symptoms of Brown-Séquard syndrome usually appear after an affected individual experiences a trauma to the neck or back. First symptoms are usually loss of the sensations of pain and temperature, often below the area of the trauma. There may also be loss of bladder and bowel control. Weakness and degeneration (atrophy) of muscles in the affected area may occur. Paralysis on the same side as that of the wound often occurs. Paralysis may be permanent if diagnosis is delayed.Individuals with this syndrome have a good chance of recovering a large measure of function. More than 90% of affected individuals recover bladder and bowel control, and the ability to walk. Most affected individuals regain some strength in their legs and most will regain functional walking ability. | Symptoms of Brown Séquard Syndrome. Symptoms of Brown-Séquard syndrome usually appear after an affected individual experiences a trauma to the neck or back. First symptoms are usually loss of the sensations of pain and temperature, often below the area of the trauma. There may also be loss of bladder and bowel control. Weakness and degeneration (atrophy) of muscles in the affected area may occur. Paralysis on the same side as that of the wound often occurs. Paralysis may be permanent if diagnosis is delayed.Individuals with this syndrome have a good chance of recovering a large measure of function. More than 90% of affected individuals recover bladder and bowel control, and the ability to walk. Most affected individuals regain some strength in their legs and most will regain functional walking ability. | 181 | Brown Séquard Syndrome |
nord_181_2 | Causes of Brown Séquard Syndrome | This syndrome is often a consequence of a traumatic injury by a knife or gunshot to the spine or neck. In many cases, however, it is caused by, or is the result of, other spinal disorders such as cervical spondylosis, arachnoid cyst or epidural hematomas. Brown-Séquard syndrome may also accompany bacterial or viral infections. Blunt traumas, such as occur in a fall or automobile accident, on rare occasions may be the cause of the Brown-Séquard syndrome.The medical literature cites, as causing or being associated with BSS, the following conditions: lateral curvature of the spine (kyphosis), Chiari I malformation, methamphetamine injection in the neck, multiple sclerosis, spinal epidural hematoma, intramedullary spinal cord tumor, and myeloschisis. Among the infectious or inflammatory causes cited are: meningitis, empyema, herpes zoster, herpes simplex, myelitis, and tuberculosis. | Causes of Brown Séquard Syndrome. This syndrome is often a consequence of a traumatic injury by a knife or gunshot to the spine or neck. In many cases, however, it is caused by, or is the result of, other spinal disorders such as cervical spondylosis, arachnoid cyst or epidural hematomas. Brown-Séquard syndrome may also accompany bacterial or viral infections. Blunt traumas, such as occur in a fall or automobile accident, on rare occasions may be the cause of the Brown-Séquard syndrome.The medical literature cites, as causing or being associated with BSS, the following conditions: lateral curvature of the spine (kyphosis), Chiari I malformation, methamphetamine injection in the neck, multiple sclerosis, spinal epidural hematoma, intramedullary spinal cord tumor, and myeloschisis. Among the infectious or inflammatory causes cited are: meningitis, empyema, herpes zoster, herpes simplex, myelitis, and tuberculosis. | 181 | Brown Séquard Syndrome |
nord_181_3 | Affects of Brown Séquard Syndrome | Brown-Séquard syndrome is a rare disorder that affects males and females in equal numbers. More than 500 cases have been reported to date. The incidence of Brown-Séquard syndrome has been estimated to be 2% of all traumatic spinal cord injuries. The annual incidence of all forms of spinal cord injury is estimated to be 30-40 per 1,000,000 people. | Affects of Brown Séquard Syndrome. Brown-Séquard syndrome is a rare disorder that affects males and females in equal numbers. More than 500 cases have been reported to date. The incidence of Brown-Séquard syndrome has been estimated to be 2% of all traumatic spinal cord injuries. The annual incidence of all forms of spinal cord injury is estimated to be 30-40 per 1,000,000 people. | 181 | Brown Séquard Syndrome |
nord_181_4 | Related disorders of Brown Séquard Syndrome | Symptoms of the following disorders can be similar to those of Brown-Séquard Syndrome. Comparisons may be useful for a differential diagnosis:Motor Neuron Disease is a degeneration of motor neurons. Motor neurons control the behavior of muscles. Motor Neuron Disease may affect the upper motor neurons, which control the signals from the brain to the spinal cord, or the lower motor neurons which lead from the spinal cord to the muscles of the body. (For more information on this disorder, choose “Motor Neuron Disease” as your search term in the Rare Disease Database.)Progressive Spinal Muscular Atrophy is a slowly progressive Motor Neuron Disease. Muscle weakness and wasting may begin in the hands and eventually affect the arms, shoulders, legs, and the rest of the body. Muscle twitching may occur in the limbs and tongue. (For more information on this disorder, choose “Motor Neuron Disease” as your search term in the Rare Disease Database.)Primary Lateral Sclerosis affects adults. It is characterized by progressive degeneration of the upper motor neurons. Difficulty in speech and swallowing, semi or complete paralysis of the legs and/or arms, and muscle twitching and spasticity may occur. (For more information on this disorder, choose “Motor Neuron Disease” as your search term in the Rare Disease Database.)Stroke is one of the most common neurological conditions affecting the central nervous system. Stroke is caused by a blockage of blood flow to part of the brain. The may happen because of a blood clot or because of the bursting of an aneurysm in the brain. | Related disorders of Brown Séquard Syndrome. Symptoms of the following disorders can be similar to those of Brown-Séquard Syndrome. Comparisons may be useful for a differential diagnosis:Motor Neuron Disease is a degeneration of motor neurons. Motor neurons control the behavior of muscles. Motor Neuron Disease may affect the upper motor neurons, which control the signals from the brain to the spinal cord, or the lower motor neurons which lead from the spinal cord to the muscles of the body. (For more information on this disorder, choose “Motor Neuron Disease” as your search term in the Rare Disease Database.)Progressive Spinal Muscular Atrophy is a slowly progressive Motor Neuron Disease. Muscle weakness and wasting may begin in the hands and eventually affect the arms, shoulders, legs, and the rest of the body. Muscle twitching may occur in the limbs and tongue. (For more information on this disorder, choose “Motor Neuron Disease” as your search term in the Rare Disease Database.)Primary Lateral Sclerosis affects adults. It is characterized by progressive degeneration of the upper motor neurons. Difficulty in speech and swallowing, semi or complete paralysis of the legs and/or arms, and muscle twitching and spasticity may occur. (For more information on this disorder, choose “Motor Neuron Disease” as your search term in the Rare Disease Database.)Stroke is one of the most common neurological conditions affecting the central nervous system. Stroke is caused by a blockage of blood flow to part of the brain. The may happen because of a blood clot or because of the bursting of an aneurysm in the brain. | 181 | Brown Séquard Syndrome |
nord_181_5 | Diagnosis of Brown Séquard Syndrome | Diagnosis of Brown Séquard Syndrome. | 181 | Brown Séquard Syndrome |
|
nord_181_6 | Therapies of Brown Séquard Syndrome | There is no specific treatment for individuals with Brown-Séquard syndrome. In most instances, treatment focuses on the underlying cause of the disorder. Treatment may involve drugs that control muscle symptoms, and there is some dispute as to whether high-dose steroid administration is effective.Devices that help an affected individual continue daily activities such as braces, hand splits, limb supports, or a wheelchair are important. Various other aids may be necessary if the patient has difficulty breathing or swallowing. Other treatment is symptomatic and supportive. | Therapies of Brown Séquard Syndrome. There is no specific treatment for individuals with Brown-Séquard syndrome. In most instances, treatment focuses on the underlying cause of the disorder. Treatment may involve drugs that control muscle symptoms, and there is some dispute as to whether high-dose steroid administration is effective.Devices that help an affected individual continue daily activities such as braces, hand splits, limb supports, or a wheelchair are important. Various other aids may be necessary if the patient has difficulty breathing or swallowing. Other treatment is symptomatic and supportive. | 181 | Brown Séquard Syndrome |
nord_182_0 | Overview of Brown Syndrome | Brown Syndrome is a rare eye disorder characterized by defects in eye movements. This disorder may be present at birth (congenital) or may occur as the result of another underlying disorder (acquired). Muscles control the movements of the eyes. Some of these muscles turn the eyeball up and down, move the eyeball from side to side, or enable the eyeball to rotate slightly in its socket. The superior oblique tendon sheath of the superior oblique muscle surrounds the eyeball. The symptoms of Brown Syndrome are caused by abnormalities of this tendon sheath including shortening, thickening, or inflammation. This results in the inability to move the affected eye upward. | Overview of Brown Syndrome. Brown Syndrome is a rare eye disorder characterized by defects in eye movements. This disorder may be present at birth (congenital) or may occur as the result of another underlying disorder (acquired). Muscles control the movements of the eyes. Some of these muscles turn the eyeball up and down, move the eyeball from side to side, or enable the eyeball to rotate slightly in its socket. The superior oblique tendon sheath of the superior oblique muscle surrounds the eyeball. The symptoms of Brown Syndrome are caused by abnormalities of this tendon sheath including shortening, thickening, or inflammation. This results in the inability to move the affected eye upward. | 182 | Brown Syndrome |
nord_182_1 | Symptoms of Brown Syndrome | People with Brown Syndrome have limited eye movement in the affected eye. The ability to move the eyeball toward the center (adduction), or outward from the center (abduction), may be restricted or absent. One eye may appear to be out of alignment with the unaffected eye, especially when looking upward. The symptoms of Brown Syndrome may also include a droopy eyelid (ptosis), widening of the eye (palpebral fissure) when looking upward, crossing of the eyes (strabismus), and/or a backward head tilt. A downward appearance (hypotropia) is usually present in the affected eye when the individual is looking straight ahead (primary position) or in an upward direction. One eye is usually affected, but both eyes (bilateral) may be affected in approximately 10 percent of people with Brown Syndrome. | Symptoms of Brown Syndrome. People with Brown Syndrome have limited eye movement in the affected eye. The ability to move the eyeball toward the center (adduction), or outward from the center (abduction), may be restricted or absent. One eye may appear to be out of alignment with the unaffected eye, especially when looking upward. The symptoms of Brown Syndrome may also include a droopy eyelid (ptosis), widening of the eye (palpebral fissure) when looking upward, crossing of the eyes (strabismus), and/or a backward head tilt. A downward appearance (hypotropia) is usually present in the affected eye when the individual is looking straight ahead (primary position) or in an upward direction. One eye is usually affected, but both eyes (bilateral) may be affected in approximately 10 percent of people with Brown Syndrome. | 182 | Brown Syndrome |
nord_182_2 | Causes of Brown Syndrome | The exact cause of most cases of Congenital Brown Syndrome is not known. The symptoms of congenital Brown Syndrome may occur due to shortening of the tendon sheath of the superior oblique muscle or thickening of the sheath that restricts its movement. However, acquired Brown Syndrome may be the result of trauma, surgery, and/or inflammation due to another underlying disorder such as Lupus or Rheumatoid Arthritis.There are several reports in the medical literature of a few rare cases of Brown Syndrome which may be inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. | Causes of Brown Syndrome. The exact cause of most cases of Congenital Brown Syndrome is not known. The symptoms of congenital Brown Syndrome may occur due to shortening of the tendon sheath of the superior oblique muscle or thickening of the sheath that restricts its movement. However, acquired Brown Syndrome may be the result of trauma, surgery, and/or inflammation due to another underlying disorder such as Lupus or Rheumatoid Arthritis.There are several reports in the medical literature of a few rare cases of Brown Syndrome which may be inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. | 182 | Brown Syndrome |
nord_182_3 | Affects of Brown Syndrome | Brown Syndrome is a rare eye disorder that affects slightly more females than males. The symptoms of the congenital form of the disease are usually present at birth. The acquired form may occur at any age. | Affects of Brown Syndrome. Brown Syndrome is a rare eye disorder that affects slightly more females than males. The symptoms of the congenital form of the disease are usually present at birth. The acquired form may occur at any age. | 182 | Brown Syndrome |
nord_182_4 | Related disorders of Brown Syndrome | Symptoms of the following disorder can be similar to those of Brown Syndrome. Comparisons may be useful for a differential diagnosis:Duane Syndrome is a rare inherited eye disorder that is present at birth (congenital) and most commonly affects males. It is characterized by limited horizontal movement of the affected eye. Generally only one eye is affected. The ability to move the eye away from the center (abduction) is reduced or absent. Movement of the eye toward the center (adduction) is also limited, and there may be weakness in focusing (convergence). Attempted eye movements result in retraction of the eyeball. An abnormally small eye (microphthalmus), an unusually small cornea (microcornea), and an irregularly shaped cornea (keratoconus) may also occur. (For more information on this disorder, choose “Duane” as your search term in the Rare Disease Database.) | Related disorders of Brown Syndrome. Symptoms of the following disorder can be similar to those of Brown Syndrome. Comparisons may be useful for a differential diagnosis:Duane Syndrome is a rare inherited eye disorder that is present at birth (congenital) and most commonly affects males. It is characterized by limited horizontal movement of the affected eye. Generally only one eye is affected. The ability to move the eye away from the center (abduction) is reduced or absent. Movement of the eye toward the center (adduction) is also limited, and there may be weakness in focusing (convergence). Attempted eye movements result in retraction of the eyeball. An abnormally small eye (microphthalmus), an unusually small cornea (microcornea), and an irregularly shaped cornea (keratoconus) may also occur. (For more information on this disorder, choose “Duane” as your search term in the Rare Disease Database.) | 182 | Brown Syndrome |
nord_182_5 | Diagnosis of Brown Syndrome | Diagnosis of Brown Syndrome. | 182 | Brown Syndrome |
|
nord_182_6 | Therapies of Brown Syndrome | Some people with congenital Brown Syndrome may not require treatment. Alignment of the eyes may improve with age, especially in those children whose eyes are normally aligned when looking straight ahead. Other individuals with Brown Syndrome may require surgery to correct the alignment of the eyes. During surgery part of the tendon which connects the superior oblique muscle may be removed (sheathectomy with inferior oblique tuck). The results of surgery are usually excellent, but the condition may recur.If Brown Syndrome is acquired because of another inflammatory disorder such as Lupus or Rheumatoid Arthritis, treatment of the underlying disorder may help to resolve the symptoms of Brown Syndrome. | Therapies of Brown Syndrome. Some people with congenital Brown Syndrome may not require treatment. Alignment of the eyes may improve with age, especially in those children whose eyes are normally aligned when looking straight ahead. Other individuals with Brown Syndrome may require surgery to correct the alignment of the eyes. During surgery part of the tendon which connects the superior oblique muscle may be removed (sheathectomy with inferior oblique tuck). The results of surgery are usually excellent, but the condition may recur.If Brown Syndrome is acquired because of another inflammatory disorder such as Lupus or Rheumatoid Arthritis, treatment of the underlying disorder may help to resolve the symptoms of Brown Syndrome. | 182 | Brown Syndrome |
nord_183_0 | Overview of Brucellosis | Brucellosis is an infectious disease that affects livestock and may be transmitted to humans. It is rare in the United States, but occurs more frequently in other parts of the world. The disorder is caused by one of four different species of bacteria that belong to the genus Brucella. Initial symptoms of infection may be nonspecific including fevers, muscle pain, headache, loss of appetite, profuse sweating, and physical weakness. In some cases, the symptoms occur suddenly (acute), whereas, in others, symptoms may develop over the course of a few months. If brucellosis is not treated, the disease may take months to resolve once appropriate therapy is begun.Brucellosis may be confined to a certain area of the body (local) or have serious widespread complications that affect various organ systems of the body including the central nervous system. Brucellosis may be prevented if people drink only pasteurized cow and goat's milk. Pasteurization kills the bacteria that cause the disease. However, farmers and people exposed to butchered meat may also be affected by brucellosis. | Overview of Brucellosis. Brucellosis is an infectious disease that affects livestock and may be transmitted to humans. It is rare in the United States, but occurs more frequently in other parts of the world. The disorder is caused by one of four different species of bacteria that belong to the genus Brucella. Initial symptoms of infection may be nonspecific including fevers, muscle pain, headache, loss of appetite, profuse sweating, and physical weakness. In some cases, the symptoms occur suddenly (acute), whereas, in others, symptoms may develop over the course of a few months. If brucellosis is not treated, the disease may take months to resolve once appropriate therapy is begun.Brucellosis may be confined to a certain area of the body (local) or have serious widespread complications that affect various organ systems of the body including the central nervous system. Brucellosis may be prevented if people drink only pasteurized cow and goat's milk. Pasteurization kills the bacteria that cause the disease. However, farmers and people exposed to butchered meat may also be affected by brucellosis. | 183 | Brucellosis |
nord_183_1 | Symptoms of Brucellosis | The symptoms of brucellosis vary greatly among affected individuals. Some individuals may have no apparent symptoms (asymptomatic); others can develop serious complications affecting various organ systems. The incubation period may range from 1-3 weeks to several months. Cases where individuals experience the sudden onset of symptoms may be referred to as acute brucellosis. Cases where affected individuals develop the same symptoms over the course of a few weeks may be referred to as subacute brucellosis. When infection with brucellosis lasts for more than one year it may be referred to as chronic brucellosis. Approximately 50 percent of people with brucellosis experience the sudden onset of symptoms (acute disease) over a period of one to two days. In some cases, symptoms develop over the course of a few weeks (subacute disease). The initial symptoms of brucellosis are nonspecific and resemble those of a flu-like illness. Such symptoms may include fever, chills, generalized weakness and fatigue, headache, muscle aches (myalgias), loss of appetite, weight loss, night sweats, joint pain (arthralgia) and inflammation (arthritis), back pain, constipation and/or a dry cough. In some cases, brucellosis is characterized by repeated episodes of fever that recur on and off for more than a year (undulant fever).Additional symptoms that may occur in individuals with brucellosis include swollen lymph glands (lymphadenopathy) and/or enlargement of the spleen (splenomegaly). Enlargement of liver (hepatomegaly) occurs less frequently. When brucellosis affects only one specific area of the body, it may be referred to as localized brucellosis. Localized brucellosis causes inflammation of affected organs including the bones, skin, liver, genitourinary and gastrointestinal tracts, central nervous system and heart. One of the most frequent sites of localized infection is the lower back, causing inflammation and pain of the lumbar vertebrae (osteomyelitis). In rare cases brucellosis may cause various skin lesions including papules, ulcers and rashes. Abscesses may affect the liver resulting in jaundice.Genitourinary tract infection may result in inflammation of the kidney (interstitial nephritis). In men inflammation and pain of the testes (epididymo-orchitis) and inflammation of the prostate (prostatitis) may also occur. Gastrointestinal tract infection may result in vomiting, nausea, diarrhea, constipation, abdominal pain, and weight loss.In some cases, brucellosis may affect the central nervous system (neurobrucellosis). Symptoms of neurobrucellosis include inflammation of the membranes (meninges) surrounding the brain and spinal cord (meningitis) and inflammation of the brain (encephalitis). Less common symptoms may include increased pressure inside the skull (intracranial hypertension); leakage of cerebrospinal fluid into the optic disk of the eye may cause swelling of the disk (papilledema) potentially resulting in progressive loss of clarity of vision (visual acuity); damage of the optic nerve (optic neuropathy) potentially resulting in loss of vision; bleeding in the brain (intracranial hemorrhage), and stroke. Another potentially serious complication of brucellosis is acute inflammation of the lining of the heart (endocarditis), which may occur in rare cases. In addition, brucellosis may cause inflammation of nerves (neuritis) in various parts of the body, as well as visual problems and impaired kidney function. Clotting problems and other abnormalities of the blood such as low levels of circulating red blood cells may also occur. | Symptoms of Brucellosis. The symptoms of brucellosis vary greatly among affected individuals. Some individuals may have no apparent symptoms (asymptomatic); others can develop serious complications affecting various organ systems. The incubation period may range from 1-3 weeks to several months. Cases where individuals experience the sudden onset of symptoms may be referred to as acute brucellosis. Cases where affected individuals develop the same symptoms over the course of a few weeks may be referred to as subacute brucellosis. When infection with brucellosis lasts for more than one year it may be referred to as chronic brucellosis. Approximately 50 percent of people with brucellosis experience the sudden onset of symptoms (acute disease) over a period of one to two days. In some cases, symptoms develop over the course of a few weeks (subacute disease). The initial symptoms of brucellosis are nonspecific and resemble those of a flu-like illness. Such symptoms may include fever, chills, generalized weakness and fatigue, headache, muscle aches (myalgias), loss of appetite, weight loss, night sweats, joint pain (arthralgia) and inflammation (arthritis), back pain, constipation and/or a dry cough. In some cases, brucellosis is characterized by repeated episodes of fever that recur on and off for more than a year (undulant fever).Additional symptoms that may occur in individuals with brucellosis include swollen lymph glands (lymphadenopathy) and/or enlargement of the spleen (splenomegaly). Enlargement of liver (hepatomegaly) occurs less frequently. When brucellosis affects only one specific area of the body, it may be referred to as localized brucellosis. Localized brucellosis causes inflammation of affected organs including the bones, skin, liver, genitourinary and gastrointestinal tracts, central nervous system and heart. One of the most frequent sites of localized infection is the lower back, causing inflammation and pain of the lumbar vertebrae (osteomyelitis). In rare cases brucellosis may cause various skin lesions including papules, ulcers and rashes. Abscesses may affect the liver resulting in jaundice.Genitourinary tract infection may result in inflammation of the kidney (interstitial nephritis). In men inflammation and pain of the testes (epididymo-orchitis) and inflammation of the prostate (prostatitis) may also occur. Gastrointestinal tract infection may result in vomiting, nausea, diarrhea, constipation, abdominal pain, and weight loss.In some cases, brucellosis may affect the central nervous system (neurobrucellosis). Symptoms of neurobrucellosis include inflammation of the membranes (meninges) surrounding the brain and spinal cord (meningitis) and inflammation of the brain (encephalitis). Less common symptoms may include increased pressure inside the skull (intracranial hypertension); leakage of cerebrospinal fluid into the optic disk of the eye may cause swelling of the disk (papilledema) potentially resulting in progressive loss of clarity of vision (visual acuity); damage of the optic nerve (optic neuropathy) potentially resulting in loss of vision; bleeding in the brain (intracranial hemorrhage), and stroke. Another potentially serious complication of brucellosis is acute inflammation of the lining of the heart (endocarditis), which may occur in rare cases. In addition, brucellosis may cause inflammation of nerves (neuritis) in various parts of the body, as well as visual problems and impaired kidney function. Clotting problems and other abnormalities of the blood such as low levels of circulating red blood cells may also occur. | 183 | Brucellosis |
nord_183_2 | Causes of Brucellosis | Brucellosis is caused by the infectious bacterium Brucella. Most cases result from exposure to infected animals or contaminated animal products. Humans can contract the disease by eating or drinking food or liquids contaminated by Brucella, breathing in (inhaling) the bacteria, or through direct contact through an open wound. Most cases occur from eating contaminated food products especially improperly pasteurized milk, cheese, or raw meat. Animals may carry the bacteria without any symptoms, which results in the contamination of animal food products such as meat or dairy products. Brucella is most commonly found among cattle, sheep, goats, camels, deer, elk, and pigs.Inhalation of Brucella or direct contact through an open wound is an occupational hazard associated with slaughterhouse workers, veterinarians, farmers, and others who may come in contact with contaminated animals. Hunters may be at risk of developing brucellosis because they may come in contact with infected animals. There are six known species of Brucella, although only four of these species cause brucellosis in humans. The four Brucella species are: Brucella abortus, which is carried by cattle; Brucella suis, which is carried by hogs; Brucella melitensis, which is transmitted by sheep and goats; and Brucella canis, which is carried by dogs. Brucella melitensis is the organism that most frequently infects humans and causes the most severe form of the disease. It is important that people drink only pasteurized milk to avoid risk of transmission from cows and goats. | Causes of Brucellosis. Brucellosis is caused by the infectious bacterium Brucella. Most cases result from exposure to infected animals or contaminated animal products. Humans can contract the disease by eating or drinking food or liquids contaminated by Brucella, breathing in (inhaling) the bacteria, or through direct contact through an open wound. Most cases occur from eating contaminated food products especially improperly pasteurized milk, cheese, or raw meat. Animals may carry the bacteria without any symptoms, which results in the contamination of animal food products such as meat or dairy products. Brucella is most commonly found among cattle, sheep, goats, camels, deer, elk, and pigs.Inhalation of Brucella or direct contact through an open wound is an occupational hazard associated with slaughterhouse workers, veterinarians, farmers, and others who may come in contact with contaminated animals. Hunters may be at risk of developing brucellosis because they may come in contact with infected animals. There are six known species of Brucella, although only four of these species cause brucellosis in humans. The four Brucella species are: Brucella abortus, which is carried by cattle; Brucella suis, which is carried by hogs; Brucella melitensis, which is transmitted by sheep and goats; and Brucella canis, which is carried by dogs. Brucella melitensis is the organism that most frequently infects humans and causes the most severe form of the disease. It is important that people drink only pasteurized milk to avoid risk of transmission from cows and goats. | 183 | Brucellosis |
nord_183_3 | Affects of Brucellosis | Brucellosis affects males and females in equal numbers. The disorder is rare in the United States since pasteurization of milk is routine and cattle are vaccinated against this disease. Fewer than 100 new cases are reported each year in the United States. These are thought to be brought into this country from areas where the infection is present (endemic) or they may be related to the consumption of unpasteurized cow and goat milk.Around the world, approximately 500,000 cases of this disease are reported to the World Health Organization (WHO) each year. As an infection in livestock, brucellosis occurs worldwide, and domestic livestock is the major source of human infection in parts of the world where livestock is not routinely vaccinated. It is most common in Russia, Africa, South America, and the Middle East. | Affects of Brucellosis. Brucellosis affects males and females in equal numbers. The disorder is rare in the United States since pasteurization of milk is routine and cattle are vaccinated against this disease. Fewer than 100 new cases are reported each year in the United States. These are thought to be brought into this country from areas where the infection is present (endemic) or they may be related to the consumption of unpasteurized cow and goat milk.Around the world, approximately 500,000 cases of this disease are reported to the World Health Organization (WHO) each year. As an infection in livestock, brucellosis occurs worldwide, and domestic livestock is the major source of human infection in parts of the world where livestock is not routinely vaccinated. It is most common in Russia, Africa, South America, and the Middle East. | 183 | Brucellosis |
nord_183_4 | Related disorders of Brucellosis | Symptoms of the following disorders can be similar to those of brucellosis. Comparisons may be useful for a differential diagnosis: Brucellosis must be differentiated from other, more common causes of fever, chronic fatigue, weakness, and other nonspecific flu-like symptoms, especially in individuals in endemic regions. These causes include other infectious diseases and various autoimmune diseases. | Related disorders of Brucellosis. Symptoms of the following disorders can be similar to those of brucellosis. Comparisons may be useful for a differential diagnosis: Brucellosis must be differentiated from other, more common causes of fever, chronic fatigue, weakness, and other nonspecific flu-like symptoms, especially in individuals in endemic regions. These causes include other infectious diseases and various autoimmune diseases. | 183 | Brucellosis |
nord_183_5 | Diagnosis of Brucellosis | A diagnosis of brucellosis is made based upon a thorough clinical evaluation, a detailed patient history and certain tests called cultures that can detect the presence of the bacterium Brucella in the blood, bone marrow, or tissue of affected organs. Cultures of blood, bone marrow, cerebrospinal fluid (when meningitis is present), or the tissue of any affected organ system may be performed to identify whether the bacterium Brucella is present.The body's immune system may create antibodies against the bacterium. Tests may be performed to detect the presence of these antibodies in the body. The most common test performed is called the serum agglutination test (SAT).Certain x-ray tests such as computed tomography (CT) scan or magnetic resonance imaging (MRI) might be used to detect skeletal changes sometimes associated with brucellosis. | Diagnosis of Brucellosis. A diagnosis of brucellosis is made based upon a thorough clinical evaluation, a detailed patient history and certain tests called cultures that can detect the presence of the bacterium Brucella in the blood, bone marrow, or tissue of affected organs. Cultures of blood, bone marrow, cerebrospinal fluid (when meningitis is present), or the tissue of any affected organ system may be performed to identify whether the bacterium Brucella is present.The body's immune system may create antibodies against the bacterium. Tests may be performed to detect the presence of these antibodies in the body. The most common test performed is called the serum agglutination test (SAT).Certain x-ray tests such as computed tomography (CT) scan or magnetic resonance imaging (MRI) might be used to detect skeletal changes sometimes associated with brucellosis. | 183 | Brucellosis |
nord_183_6 | Therapies of Brucellosis | TreatmentThe treatment of choice for brucellosis is antibiotic drugs, usually the combination of doxycycline and streptomycin. These medications are usually administered for about 6 weeks. Rifampin may be used as an alternative to streptomycin but is usually less effective.The drugs trimethoprim/sulfamethoxazole is an adequate alternative, but are not as effective as doxycycline and either rifampin or streptomycin. There is debate in the medical literature as to which is the more effective combination therapy. If serious complications develop, such as acute inflammation of either the membranes that line the brain (meningitis) or the lining of the heart (endocarditis), rifampin may be added to the combination of trimethoprim/sulfamethoxazole. People with endocarditis associated with brucellosis generally require heart valve replacement in addition to antibiotic therapy. Other treatment is symptomatic and supportive.Less than 10 percent of people with brucellosis experience a relapse of the disease after antibiotic treatment. Steroid medications (e.g., prednisone) may be administered to those affected individuals who have severe symptoms associated with the release of toxins into the blood (toxemia). Severe pain, especially in the spine, may require pain management with drugs such as codeine.People with acute brucellosis should restrict their daily activity to avoid fatigue. Complete bed rest is recommended during periods of fever. | Therapies of Brucellosis. TreatmentThe treatment of choice for brucellosis is antibiotic drugs, usually the combination of doxycycline and streptomycin. These medications are usually administered for about 6 weeks. Rifampin may be used as an alternative to streptomycin but is usually less effective.The drugs trimethoprim/sulfamethoxazole is an adequate alternative, but are not as effective as doxycycline and either rifampin or streptomycin. There is debate in the medical literature as to which is the more effective combination therapy. If serious complications develop, such as acute inflammation of either the membranes that line the brain (meningitis) or the lining of the heart (endocarditis), rifampin may be added to the combination of trimethoprim/sulfamethoxazole. People with endocarditis associated with brucellosis generally require heart valve replacement in addition to antibiotic therapy. Other treatment is symptomatic and supportive.Less than 10 percent of people with brucellosis experience a relapse of the disease after antibiotic treatment. Steroid medications (e.g., prednisone) may be administered to those affected individuals who have severe symptoms associated with the release of toxins into the blood (toxemia). Severe pain, especially in the spine, may require pain management with drugs such as codeine.People with acute brucellosis should restrict their daily activity to avoid fatigue. Complete bed rest is recommended during periods of fever. | 183 | Brucellosis |
nord_184_0 | Overview of Brugada Syndrome | SummaryBrugada syndrome is a rare inherited cardiovascular disorder characterized by disturbances affecting the electrical system of the heart. The main symptom is irregular heartbeats and, without treatment, may potentially result in sudden death. Recent reports suggest that Brugada syndrome could be responsible up to 20% of sudden death in patients with structurally normal hearts. The clinical phenotype manifests in adulthood, and it is more frequent in males. Frequently, sudden death can be the first manifestation of the disease. Brugada syndrome is a genetic disease and follows autosomal dominant inheritance. Currently, the prevalence of Brugada syndrome is estimated at 5 in 10,000 people.IntroductionThe normal heart has four chambers. The two upper chambers are known as the atria and the two lower chambers are known as the ventricles. Electrical impulses cause the heart to beat. In individuals with Brugada syndrome, the electrical impulses between the ventricles become uncoordinated (ventricular fibrillation) resulting in decreased blood flow. Decreased blood flow to the brain and heart may result in fainting or sudden death.Brugada syndrome is named by the Spanish cardiologists Pedro Brugada and Josep Brugada who reported it as a distinct clinical syndrome in 1992. The genetic basis of Brugada syndrome was established by Ramon Brugada in 1998. | Overview of Brugada Syndrome. SummaryBrugada syndrome is a rare inherited cardiovascular disorder characterized by disturbances affecting the electrical system of the heart. The main symptom is irregular heartbeats and, without treatment, may potentially result in sudden death. Recent reports suggest that Brugada syndrome could be responsible up to 20% of sudden death in patients with structurally normal hearts. The clinical phenotype manifests in adulthood, and it is more frequent in males. Frequently, sudden death can be the first manifestation of the disease. Brugada syndrome is a genetic disease and follows autosomal dominant inheritance. Currently, the prevalence of Brugada syndrome is estimated at 5 in 10,000 people.IntroductionThe normal heart has four chambers. The two upper chambers are known as the atria and the two lower chambers are known as the ventricles. Electrical impulses cause the heart to beat. In individuals with Brugada syndrome, the electrical impulses between the ventricles become uncoordinated (ventricular fibrillation) resulting in decreased blood flow. Decreased blood flow to the brain and heart may result in fainting or sudden death.Brugada syndrome is named by the Spanish cardiologists Pedro Brugada and Josep Brugada who reported it as a distinct clinical syndrome in 1992. The genetic basis of Brugada syndrome was established by Ramon Brugada in 1998. | 184 | Brugada Syndrome |
nord_184_1 | Symptoms of Brugada Syndrome | An affected individual with Brugada syndrome typically begins to show symptoms around the age of 40. Individuals with Brugada syndrome may experience irregular heartbeats (ventricular arrhythmias) or may have no apparent symptoms (asymptomatic). Irregular heartbeats may cause difficulty breathing, loss of consciousness or fainting (syncope), and sudden death.The severity of symptoms varies from person to person. There are some known triggers for Brugada syndrome like fever and sodium blocking drugs.A specific presentation of Brugada syndrome is known as sudden unexpected nocturnal death syndrome (SUNDS). SUNDS is prevalent is Southeast Asia and occurs in young individuals, who die from cardiac arrest during sleep with no apparent or identifiable cause. Another presentation of Brugada syndrome is sudden infant death syndrome (SIDS), which is the death of a child within the first year of life without an identifiable cause. | Symptoms of Brugada Syndrome. An affected individual with Brugada syndrome typically begins to show symptoms around the age of 40. Individuals with Brugada syndrome may experience irregular heartbeats (ventricular arrhythmias) or may have no apparent symptoms (asymptomatic). Irregular heartbeats may cause difficulty breathing, loss of consciousness or fainting (syncope), and sudden death.The severity of symptoms varies from person to person. There are some known triggers for Brugada syndrome like fever and sodium blocking drugs.A specific presentation of Brugada syndrome is known as sudden unexpected nocturnal death syndrome (SUNDS). SUNDS is prevalent is Southeast Asia and occurs in young individuals, who die from cardiac arrest during sleep with no apparent or identifiable cause. Another presentation of Brugada syndrome is sudden infant death syndrome (SIDS), which is the death of a child within the first year of life without an identifiable cause. | 184 | Brugada Syndrome |
nord_184_2 | Causes of Brugada Syndrome | Brugada Syndrome is caused mainly by mutations in the SCN5A gene which encodes the α-subunit of the voltage-gated Nav1.5, the cardiac sodium channel responsible for regulating rapid sodium current –INa-. It induces a disturbed functioning of sodium channel subunits or proteins that regulate them. Dysfunction of the sodium channels leads to local conduction blockages in the heart.Currently, more than 250 mutations associated with BrS have been reported in 18 different genes (SCN5A, SCN1B, SCN2B, SCN3B, SCN10A, ABCC9, GPD1L, CACNA1C, CACNB2, CACNA2D1, KCND3, KCNE3, KCNE1L -KCNE5-, KCNJ8, HCN4, RANGRF, SLMAP, and TRPM4), which encode for sodium, potassium, and calcium channels or proteins associated with these channels. Despite the identification of 18 associated genes, 65%–70% of clinically diagnosed cases remain without an identifiable genetic cause.Most part of these mutations is inherited in an autosomal dominant manner from parents to their children. This means only a single copy of an abnormal gene is necessary for the appearance of the disease in an individual. Most individuals with the disease also have an affected parent. Each child of an affected individual has a 50% chance of inheriting the genetic variation, regardless of the sex of the individual.The primary gene known to be associated with Brugada syndrome is located on chromosome 3 and has been termed the SCN5A gene. Approximately 15%-30% of individuals with Brugada syndrome have a SCN5A gene mutation. This gene is responsible for the production of a protein that allows movement of sodium atoms into heart muscle cells through a channel called the sodium channel. Abnormalities in the SCN5A gene change the structure or function of the sodium channel and result in a reduction of sodium into the heart cells. Reduced sodium can lead to an abnormal heart rhythm that can lead to sudden death. The SCN5A gene mutations are also associated with the long QT syndrome type 3 (LQT3), which is one form of a heart rhythm abnormality called Romano-Ward syndrome. Some families have been reported that have relatives with Brugada syndrome and LQT3, suggesting that these conditions may be different types of the same disorder. | Causes of Brugada Syndrome. Brugada Syndrome is caused mainly by mutations in the SCN5A gene which encodes the α-subunit of the voltage-gated Nav1.5, the cardiac sodium channel responsible for regulating rapid sodium current –INa-. It induces a disturbed functioning of sodium channel subunits or proteins that regulate them. Dysfunction of the sodium channels leads to local conduction blockages in the heart.Currently, more than 250 mutations associated with BrS have been reported in 18 different genes (SCN5A, SCN1B, SCN2B, SCN3B, SCN10A, ABCC9, GPD1L, CACNA1C, CACNB2, CACNA2D1, KCND3, KCNE3, KCNE1L -KCNE5-, KCNJ8, HCN4, RANGRF, SLMAP, and TRPM4), which encode for sodium, potassium, and calcium channels or proteins associated with these channels. Despite the identification of 18 associated genes, 65%–70% of clinically diagnosed cases remain without an identifiable genetic cause.Most part of these mutations is inherited in an autosomal dominant manner from parents to their children. This means only a single copy of an abnormal gene is necessary for the appearance of the disease in an individual. Most individuals with the disease also have an affected parent. Each child of an affected individual has a 50% chance of inheriting the genetic variation, regardless of the sex of the individual.The primary gene known to be associated with Brugada syndrome is located on chromosome 3 and has been termed the SCN5A gene. Approximately 15%-30% of individuals with Brugada syndrome have a SCN5A gene mutation. This gene is responsible for the production of a protein that allows movement of sodium atoms into heart muscle cells through a channel called the sodium channel. Abnormalities in the SCN5A gene change the structure or function of the sodium channel and result in a reduction of sodium into the heart cells. Reduced sodium can lead to an abnormal heart rhythm that can lead to sudden death. The SCN5A gene mutations are also associated with the long QT syndrome type 3 (LQT3), which is one form of a heart rhythm abnormality called Romano-Ward syndrome. Some families have been reported that have relatives with Brugada syndrome and LQT3, suggesting that these conditions may be different types of the same disorder. | 184 | Brugada Syndrome |
nord_184_3 | Affects of Brugada Syndrome | Brugada syndrome affects both men and women, but occurs more often in men (5-8 times more). The incidence rate is currently unknown due to its recent identification and discovery. It is estimated to affect 5 out of every 10,000 people. Brugada syndrome occurs worldwide, but is seen more frequently in individuals of Southeast Asia and Japan. According to the medical literature, Brugada syndrome may account for 4 to 12 percent of all sudden deaths and up to 20 percent of all sudden deaths in individuals with structurally normal hearts.Brugada syndrome may affect individuals of any age, but symptoms most often occur in middle-aged men around the age of 40. The disorder was first described in the medical literature in 1992. | Affects of Brugada Syndrome. Brugada syndrome affects both men and women, but occurs more often in men (5-8 times more). The incidence rate is currently unknown due to its recent identification and discovery. It is estimated to affect 5 out of every 10,000 people. Brugada syndrome occurs worldwide, but is seen more frequently in individuals of Southeast Asia and Japan. According to the medical literature, Brugada syndrome may account for 4 to 12 percent of all sudden deaths and up to 20 percent of all sudden deaths in individuals with structurally normal hearts.Brugada syndrome may affect individuals of any age, but symptoms most often occur in middle-aged men around the age of 40. The disorder was first described in the medical literature in 1992. | 184 | Brugada Syndrome |
nord_184_4 | Related disorders of Brugada Syndrome | Symptoms of the following disorders can be similar to those of Brugada syndrome. Comparisons may be useful for a differential diagnosis:Romano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from patient to patient. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. Romano-Ward syndrome is inherited as an autosomal dominant trait. One type of Romano-Ward syndrome called long QT syndrome type 3 (LQT3) is caused by abnormalities in the SCN5A gene; therefore, LQT3 and Brugada syndrome may be different types of the same disorder. (For more information on this disorder, choose Romano-Ward as your search term in the Rare Disease Database.)Arrhythmogenic cardiomyopathy (AC) is a rare form of non-ischemic cardiomyopathy in which the normal muscular tissue of the right ventricle is replaced by fatty tissue. The symptoms of AC vary greatly. Symptoms may develop during childhood, but in most cases do not appear until the 30s or 40s. Symptoms associated with AC may include irregular heartbeats (arrhythmias), shortness of breath, swollen neck veins, abdominal discomfort, and fainting episodes (syncope). In some cases, no symptoms are apparent until an affected individual goes into cardiac arrest and possibly sudden death. (For more information on this disorder, choose arrhythmogenic right ventricular dysplasia as your search term in the Rare Disease Database.)Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between three and six years of age. DMD is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve additional muscles of the body. The disease is progressive and most affected individuals require a wheelchair by the teenage years. Serious life-threatening complications may ultimately develop including disease of the heart muscle (cardiomyopathy) and breathing (respiratory) difficulties. DMD is caused by changes (mutations) of the DMD gene on the X chromosome. The gene regulates the production of a protein called dystrophin that is found in association with the inner side of the membrane of skeletal and cardiac muscle cells. Dystrophin is thought to play an important role in maintaining the structure of these muscle cells.Additional disorders may have similar heart rhythm abnormalities as those seen in Brugada syndrome. These disorders include acute myocarditis, acute pulmonary thromboemboli, right ventricular ischemia or infarction, thiamine deficiency, hypercalcemia and hyperkalemia. | Related disorders of Brugada Syndrome. Symptoms of the following disorders can be similar to those of Brugada syndrome. Comparisons may be useful for a differential diagnosis:Romano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from patient to patient. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. Romano-Ward syndrome is inherited as an autosomal dominant trait. One type of Romano-Ward syndrome called long QT syndrome type 3 (LQT3) is caused by abnormalities in the SCN5A gene; therefore, LQT3 and Brugada syndrome may be different types of the same disorder. (For more information on this disorder, choose Romano-Ward as your search term in the Rare Disease Database.)Arrhythmogenic cardiomyopathy (AC) is a rare form of non-ischemic cardiomyopathy in which the normal muscular tissue of the right ventricle is replaced by fatty tissue. The symptoms of AC vary greatly. Symptoms may develop during childhood, but in most cases do not appear until the 30s or 40s. Symptoms associated with AC may include irregular heartbeats (arrhythmias), shortness of breath, swollen neck veins, abdominal discomfort, and fainting episodes (syncope). In some cases, no symptoms are apparent until an affected individual goes into cardiac arrest and possibly sudden death. (For more information on this disorder, choose arrhythmogenic right ventricular dysplasia as your search term in the Rare Disease Database.)Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between three and six years of age. DMD is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve additional muscles of the body. The disease is progressive and most affected individuals require a wheelchair by the teenage years. Serious life-threatening complications may ultimately develop including disease of the heart muscle (cardiomyopathy) and breathing (respiratory) difficulties. DMD is caused by changes (mutations) of the DMD gene on the X chromosome. The gene regulates the production of a protein called dystrophin that is found in association with the inner side of the membrane of skeletal and cardiac muscle cells. Dystrophin is thought to play an important role in maintaining the structure of these muscle cells.Additional disorders may have similar heart rhythm abnormalities as those seen in Brugada syndrome. These disorders include acute myocarditis, acute pulmonary thromboemboli, right ventricular ischemia or infarction, thiamine deficiency, hypercalcemia and hyperkalemia. | 184 | Brugada Syndrome |
nord_184_5 | Diagnosis of Brugada Syndrome | The diagnosis of Brugada syndrome is based on a thorough clinical evaluation, a complete medical and family history that may include a family history of sudden cardiac death, and a specialized test known as an electrocardiogram (ECG of EKG) that records electrical activity of the heart and may reveal abnormal electrical patterns. Physicians may use specific drugs (sodium channel blockers) that provoke characteristic EKG features of Brugada syndrome.Molecular genetic (DNA) testing is available for mutations in all genes to confirm the diagnosis but only about 30-35% of affected individuals have an identifiable gene mutation after a comprehensive genetic test. Sequence analysis of the SCN5A gene is the first step in making a molecular genetic diagnosis because mutations in this gene are the most common cause of Brugada syndrome (nearly 25%).Clinical Testing and Work-UpAn electrocardiogram is recommended to determine the extent of disease in those affected. An electrophysiologic study may be used to assess risk of sudden cardiac death. | Diagnosis of Brugada Syndrome. The diagnosis of Brugada syndrome is based on a thorough clinical evaluation, a complete medical and family history that may include a family history of sudden cardiac death, and a specialized test known as an electrocardiogram (ECG of EKG) that records electrical activity of the heart and may reveal abnormal electrical patterns. Physicians may use specific drugs (sodium channel blockers) that provoke characteristic EKG features of Brugada syndrome.Molecular genetic (DNA) testing is available for mutations in all genes to confirm the diagnosis but only about 30-35% of affected individuals have an identifiable gene mutation after a comprehensive genetic test. Sequence analysis of the SCN5A gene is the first step in making a molecular genetic diagnosis because mutations in this gene are the most common cause of Brugada syndrome (nearly 25%).Clinical Testing and Work-UpAn electrocardiogram is recommended to determine the extent of disease in those affected. An electrophysiologic study may be used to assess risk of sudden cardiac death. | 184 | Brugada Syndrome |
nord_184_6 | Therapies of Brugada Syndrome | TreatmentNo cure for Brugada syndrome exists, so far. Individuals at a high risk of ventricular fibrillation are treated with an implantable cardioverter defibrillator (ICD). This device detects the abnormal heartbeat automatically and selectively delivers an electrical impulse to the heart restoring normally rhythm.Isoproterenol is an antiarrhythmic, which is used an effective way to respond to electrical storms (unstable ventricular arrhythmias). Recommendations for treatment of asymptomatic individuals are controversial. Possible treatments may include: observation until symptoms develop, although the first symptom is sometimes sudden cardiac death, or the use of family history or electrophysiologic study to determine who is appropriate for ICD placement.Genetic counseling is recommended for affected individuals and their families. Other treatment is symptomatic and supportive. | Therapies of Brugada Syndrome. TreatmentNo cure for Brugada syndrome exists, so far. Individuals at a high risk of ventricular fibrillation are treated with an implantable cardioverter defibrillator (ICD). This device detects the abnormal heartbeat automatically and selectively delivers an electrical impulse to the heart restoring normally rhythm.Isoproterenol is an antiarrhythmic, which is used an effective way to respond to electrical storms (unstable ventricular arrhythmias). Recommendations for treatment of asymptomatic individuals are controversial. Possible treatments may include: observation until symptoms develop, although the first symptom is sometimes sudden cardiac death, or the use of family history or electrophysiologic study to determine who is appropriate for ICD placement.Genetic counseling is recommended for affected individuals and their families. Other treatment is symptomatic and supportive. | 184 | Brugada Syndrome |
nord_185_0 | Overview of Budd Chiari Syndrome | Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). Symptoms associated with Budd Chiari syndrome include pain in the upper right part of the abdomen, an abnormally large liver (hepatomegaly), and/or accumulation of fluid in the space (peritoneal cavity) between the two layers of the membrane that lines the stomach (ascites). Additional findings that may be associated with the disorder include nausea, vomiting, and/or an abnormally large spleen (splenomegaly). The severity of the disorder varies from case to case, depending upon the site and number of affected veins. In some cases, if the major hepatic veins are involved, high blood pressure in the veins carrying blood from the gastrointestinal (GI) tract back to the heart through the liver (portal hypertension) may be present. In most cases, the exact cause of Budd-Chiari syndrome is unknown. | Overview of Budd Chiari Syndrome. Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). Symptoms associated with Budd Chiari syndrome include pain in the upper right part of the abdomen, an abnormally large liver (hepatomegaly), and/or accumulation of fluid in the space (peritoneal cavity) between the two layers of the membrane that lines the stomach (ascites). Additional findings that may be associated with the disorder include nausea, vomiting, and/or an abnormally large spleen (splenomegaly). The severity of the disorder varies from case to case, depending upon the site and number of affected veins. In some cases, if the major hepatic veins are involved, high blood pressure in the veins carrying blood from the gastrointestinal (GI) tract back to the heart through the liver (portal hypertension) may be present. In most cases, the exact cause of Budd-Chiari syndrome is unknown. | 185 | Budd Chiari Syndrome |
nord_185_1 | Symptoms of Budd Chiari Syndrome | Budd-Chiari syndrome involves obstruction or narrowing (occlusion) of the outflowing veins from either large regions of the liver or the entire liver. Blood clots or congenital webbing occur at the junction of these vessels with the large vein that carries the blood from the lower part of the body (inferior vena cava) to the right upper chamber (atrium) of the heart. This syndrome may begin gradually or abruptly. Symptoms associated with Budd-Chiari syndrome include pain in the upper right part of the abdomen, an abnormally enlarged liver (hepatomegaly), yellowing of the skin and the whites of the eyes (jaundice), and/or accumulation of fluid in the space (peritoneal cavity) between the two layers of the membrane that lines the stomach (ascites). In some cases, there may be increased blood pressure in the veins carrying blood from the gastrointestinal (GI) tract back to the heart through the liver (portal hypertension). In some cases, impaired liver function may also develop. Liver biopsy tests show central cell deterioration, development of fibrous growths and blockage (occlusion) of the terminal liver veins. When vein blockage is severe, onset of the disorder can be sudden, and may be accompanied by severe pain. If the disease is chronic, onset may be gradual. In some cases, there may also be unusual swelling due to abnormal accumulation of fluid (edema) within the tissues of the legs.In some cases, affected individuals may have scarring (fibrosis) and impaired functioning of the liver (cirrhosis) before or following the development of Budd-Chiari syndrome. | Symptoms of Budd Chiari Syndrome. Budd-Chiari syndrome involves obstruction or narrowing (occlusion) of the outflowing veins from either large regions of the liver or the entire liver. Blood clots or congenital webbing occur at the junction of these vessels with the large vein that carries the blood from the lower part of the body (inferior vena cava) to the right upper chamber (atrium) of the heart. This syndrome may begin gradually or abruptly. Symptoms associated with Budd-Chiari syndrome include pain in the upper right part of the abdomen, an abnormally enlarged liver (hepatomegaly), yellowing of the skin and the whites of the eyes (jaundice), and/or accumulation of fluid in the space (peritoneal cavity) between the two layers of the membrane that lines the stomach (ascites). In some cases, there may be increased blood pressure in the veins carrying blood from the gastrointestinal (GI) tract back to the heart through the liver (portal hypertension). In some cases, impaired liver function may also develop. Liver biopsy tests show central cell deterioration, development of fibrous growths and blockage (occlusion) of the terminal liver veins. When vein blockage is severe, onset of the disorder can be sudden, and may be accompanied by severe pain. If the disease is chronic, onset may be gradual. In some cases, there may also be unusual swelling due to abnormal accumulation of fluid (edema) within the tissues of the legs.In some cases, affected individuals may have scarring (fibrosis) and impaired functioning of the liver (cirrhosis) before or following the development of Budd-Chiari syndrome. | 185 | Budd Chiari Syndrome |
nord_185_2 | Causes of Budd Chiari Syndrome | The exact cause of approximately 70% of all cases of Budd-Chiari syndrome is unknown. Approximately 10% of individuals with Budd-Chiari syndrome have polycythemia vera. (For more information on this disorder, see the Related Disorders section of this report.) Symptoms develop due to blockage of the major veins that carry blood from the liver to the heart. The blockage is usually due to clotting or overgrowth of fibrous tissue in the veins. The blockage may, in some cases, be caused by Pyrrolidizine plant alkaloids (bush tea) used in some parts of the world as a drink. Other identified causes may be exposure to radiation, arsenic, trauma, blood poisoning (sepsis), vinyl chloride monomer, cancer, or some cancer chemotherapy drugs, as well as the use of birth control pills. | Causes of Budd Chiari Syndrome. The exact cause of approximately 70% of all cases of Budd-Chiari syndrome is unknown. Approximately 10% of individuals with Budd-Chiari syndrome have polycythemia vera. (For more information on this disorder, see the Related Disorders section of this report.) Symptoms develop due to blockage of the major veins that carry blood from the liver to the heart. The blockage is usually due to clotting or overgrowth of fibrous tissue in the veins. The blockage may, in some cases, be caused by Pyrrolidizine plant alkaloids (bush tea) used in some parts of the world as a drink. Other identified causes may be exposure to radiation, arsenic, trauma, blood poisoning (sepsis), vinyl chloride monomer, cancer, or some cancer chemotherapy drugs, as well as the use of birth control pills. | 185 | Budd Chiari Syndrome |
nord_185_3 | Affects of Budd Chiari Syndrome | Budd-Chiari syndrome affects males and females in equal numbers. Most cases tend to affect individuals between the ages of twenty and forty. | Affects of Budd Chiari Syndrome. Budd-Chiari syndrome affects males and females in equal numbers. Most cases tend to affect individuals between the ages of twenty and forty. | 185 | Budd Chiari Syndrome |
nord_185_4 | Related disorders of Budd Chiari Syndrome | Symptoms of the following disorders can be similar to those of Budd-Chiari syndrome. Comparisons may be useful for a differential diagnosis:Lesions of the Hepatic (liver) Artery. Hepatic artery blockage (occlusion) is usually caused by clotting (thrombosis/embolism) or surgical ligation. The blockage may result in the destruction of tissue in the liver. However, the outcome is unpredictable since each individual reacts to these situations differently. Ballooning of the vessel wall (aneurysm) of the hepatic artery can occur as a result of infection, arteriosclerosis, trauma, or other disorders. Aneurysms are often multiple and tend to rupture into the abdominal cavity (peritoneum), common bile duct, or adjacent hollow organs. The ruptured hepatic artery aneurysm can cause upper abdominal colic, obstructive jaundice, or gastrointestinal (GI) tract bleeding (hemorrhage). Early surgery on the hepatic artery aneurysm is recommended to avoid complications.Lesions of the Hepatic Venous System. Veno-Occlusive disease involves injury or disease of the terminal hepatic veins or the small hepatic vein system inside the liver. The larger branches of the hepatic vein system are not involved. Obstruction of the flow from the hepatic sinisoids, which results in liver cell damage.The following disorder may precede the development of Budd-Chiari syndrome. It can be useful in identifying an underlying cause of some forms of this symdrome:Polycythemia vera is a rare chronic myeloproliferative disorder characterized by overproduction of red blood cells and elements of the bone marrow involved in the formation of red blood cells (hematopoietic elements). In most cases, affected individuals experience headaches, weakness, dizziness (vertigo), and/or a ringing noise in the ear (tinnitus). In some cases, individuals with polycythemia vera experience itching (pruritis), especially after a hot bath. Affected individuals often have an abnormally enlarged spleen (splenomegaly) and/or liver (hepatomegaly). In some cases, affected individuals may have associated conditions, including high blood pressure (hypertension), the formation of blood clots (thrombosis), rupturing of and loss of blood (hemorrhaging) from certain blood vessels, and/or Budd-Chiari syndrome. The exact cause of polycythemia vera is unknown. | Related disorders of Budd Chiari Syndrome. Symptoms of the following disorders can be similar to those of Budd-Chiari syndrome. Comparisons may be useful for a differential diagnosis:Lesions of the Hepatic (liver) Artery. Hepatic artery blockage (occlusion) is usually caused by clotting (thrombosis/embolism) or surgical ligation. The blockage may result in the destruction of tissue in the liver. However, the outcome is unpredictable since each individual reacts to these situations differently. Ballooning of the vessel wall (aneurysm) of the hepatic artery can occur as a result of infection, arteriosclerosis, trauma, or other disorders. Aneurysms are often multiple and tend to rupture into the abdominal cavity (peritoneum), common bile duct, or adjacent hollow organs. The ruptured hepatic artery aneurysm can cause upper abdominal colic, obstructive jaundice, or gastrointestinal (GI) tract bleeding (hemorrhage). Early surgery on the hepatic artery aneurysm is recommended to avoid complications.Lesions of the Hepatic Venous System. Veno-Occlusive disease involves injury or disease of the terminal hepatic veins or the small hepatic vein system inside the liver. The larger branches of the hepatic vein system are not involved. Obstruction of the flow from the hepatic sinisoids, which results in liver cell damage.The following disorder may precede the development of Budd-Chiari syndrome. It can be useful in identifying an underlying cause of some forms of this symdrome:Polycythemia vera is a rare chronic myeloproliferative disorder characterized by overproduction of red blood cells and elements of the bone marrow involved in the formation of red blood cells (hematopoietic elements). In most cases, affected individuals experience headaches, weakness, dizziness (vertigo), and/or a ringing noise in the ear (tinnitus). In some cases, individuals with polycythemia vera experience itching (pruritis), especially after a hot bath. Affected individuals often have an abnormally enlarged spleen (splenomegaly) and/or liver (hepatomegaly). In some cases, affected individuals may have associated conditions, including high blood pressure (hypertension), the formation of blood clots (thrombosis), rupturing of and loss of blood (hemorrhaging) from certain blood vessels, and/or Budd-Chiari syndrome. The exact cause of polycythemia vera is unknown. | 185 | Budd Chiari Syndrome |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.