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What causes Citrullinemia type I ? | What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in this condition. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Citrullinemia type I ? assistant What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in this condition. |
Is Citrullinemia type I inherited ? | How is citrullinemia type I inherited? Citrullinemia type I is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Citrullinemia type I inherited ? assistant How is citrullinemia type I inherited? Citrullinemia type I is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
What are the treatments for Citrullinemia type I ? | What happens when citrullinemia type I is not treated? Untreated individuals with the severe form of citrullinemia type I have hyperammonemia (plasma ammonia concentration 1000-3000 mol/L). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites result in swelling of the brain, breathing problems, increased or decreased muscle tone, muscle weakness, problems staying warm, seizures, loss of consciousness, and sometimes death. Without treatment, most babies die within the first few weeks of life. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Citrullinemia type I ? assistant What happens when citrullinemia type I is not treated? Untreated individuals with the severe form of citrullinemia type I have hyperammonemia (plasma ammonia concentration 1000-3000 mol/L). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites result in swelling of the brain, breathing problems, increased or decreased muscle tone, muscle weakness, problems staying warm, seizures, loss of consciousness, and sometimes death. Without treatment, most babies die within the first few weeks of life. |
What is (are) Turner syndrome ? | Turner syndrome is a chromosomal disorder that affects development in females. It is characterized by a person having one X chromosome in each cell (females without Turner syndrome have two X chromosomes in each cell). Signs and symptoms may include short stature; premature ovarian failure; a "webbed" neck; a low hairline at the back of the neck; and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Turner syndrome ? assistant Turner syndrome is a chromosomal disorder that affects development in females. It is characterized by a person having one X chromosome in each cell (females without Turner syndrome have two X chromosomes in each cell). Signs and symptoms may include short stature; premature ovarian failure; a "webbed" neck; a low hairline at the back of the neck; and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant. |
What are the symptoms of Turner syndrome ? | What are the signs and symptoms of Turner syndrome? There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present. Additional symptoms of Turner syndrome may include: a wide, webbed neck a low or indistinct hairline in the back of the head swelling (lymphedema) of the hands and feet broad chest and widely spaced nipples arms that turn out slightly at the elbow congenital heart defects or heart murmur scoliosis (curving of the spine) or other skeletal abnormalities kidney problems an underactive thyroid gland a slightly increased risk to develop diabetes, especially if older or overweight osteoporosis due to a lack of estrogen, (usually prevented by hormone replacement therapy). The Human Phenotype Ontology provides the following list of signs and symptoms for Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the aorta 90% Aplasia/Hypoplasia of the nipples 90% Cubitus valgus 90% Enlarged thorax 90% Low posterior hairline 90% Polycystic ovaries 90% Short stature 90% Abnormal dermatoglyphics 50% Abnormal localization of kidney 50% Abnormality of the fingernails 50% Abnormality of the metacarpal bones 50% Hypoplastic toenails 50% Melanocytic nevus 50% Secondary amenorrhea 50% Webbed neck 50% Atria septal defect 7.5% Atypical scarring of skin 7.5% Cognitive impairment 7.5% Cystic hygroma 7.5% Delayed skeletal maturation 7.5% Lymphedema 7.5% Ptosis 7.5% Reduced bone mineral density 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Turner syndrome ? assistant What are the signs and symptoms of Turner syndrome? There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present. Additional symptoms of Turner syndrome may include: a wide, webbed neck a low or indistinct hairline in the back of the head swelling (lymphedema) of the hands and feet broad chest and widely spaced nipples arms that turn out slightly at the elbow congenital heart defects or heart murmur scoliosis (curving of the spine) or other skeletal abnormalities kidney problems an underactive thyroid gland a slightly increased risk to develop diabetes, especially if older or overweight osteoporosis due to a lack of estrogen, (usually prevented by hormone replacement therapy). The Human Phenotype Ontology provides the following list of signs and symptoms for Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the aorta 90% Aplasia/Hypoplasia of the nipples 90% Cubitus valgus 90% Enlarged thorax 90% Low posterior hairline 90% Polycystic ovaries 90% Short stature 90% Abnormal dermatoglyphics 50% Abnormal localization of kidney 50% Abnormality of the fingernails 50% Abnormality of the metacarpal bones 50% Hypoplastic toenails 50% Melanocytic nevus 50% Secondary amenorrhea 50% Webbed neck 50% Atria septal defect 7.5% Atypical scarring of skin 7.5% Cognitive impairment 7.5% Cystic hygroma 7.5% Delayed skeletal maturation 7.5% Lymphedema 7.5% Ptosis 7.5% Reduced bone mineral density 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes Turner syndrome ? | What causes Turner syndrome? Turner syndrome is caused by partial or complete loss of one of the X chromosomes in cells of females. Females without Turner syndrome have 2 full X chromosome in all of their cells (and males have one X chromosome and one Y chromosome). The missing genetic material affects development before and after birth. Most females with Turner syndrome are missing a full X chromosome in all of their cells (also called monosomy X). This form results from a random error in an egg or sperm cell prior to conception. Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion). Depending on the specific gene(s) that are missing, the features of Turner syndrome may result. A deletion may occur sporadically (not inherited) or may be inherited from a parent. Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception). It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Turner syndrome ? assistant What causes Turner syndrome? Turner syndrome is caused by partial or complete loss of one of the X chromosomes in cells of females. Females without Turner syndrome have 2 full X chromosome in all of their cells (and males have one X chromosome and one Y chromosome). The missing genetic material affects development before and after birth. Most females with Turner syndrome are missing a full X chromosome in all of their cells (also called monosomy X). This form results from a random error in an egg or sperm cell prior to conception. Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion). Depending on the specific gene(s) that are missing, the features of Turner syndrome may result. A deletion may occur sporadically (not inherited) or may be inherited from a parent. Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception). It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women. |
Is Turner syndrome inherited ? | Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with an egg or sperm containing an X chromosome, the resulting child will have a single X chromosome in each cell. Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two sex chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception. In rare cases, Turner syndrome may be caused by a missing piece (partial deletion) of the X chromosome. A deletion can be inherited from a parent. Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetic counselor or other genetics professional. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Turner syndrome inherited ? assistant Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with an egg or sperm containing an X chromosome, the resulting child will have a single X chromosome in each cell. Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two sex chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception. In rare cases, Turner syndrome may be caused by a missing piece (partial deletion) of the X chromosome. A deletion can be inherited from a parent. Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetic counselor or other genetics professional. |
What are the symptoms of Spinocerebellar ataxia 17 ? | What are the signs and symptoms of Spinocerebellar ataxia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Apraxia - Autosomal dominant inheritance - Bradykinesia - Broad-based gait - Cerebellar atrophy - Chorea - Confusion - Depression - Diffuse cerebral atrophy - Dysarthria - Dysmetria - Dysphagia - Dystonia - Frontal lobe dementia - Frontal release signs - Gait ataxia - Gaze-evoked nystagmus - Gliosis - Hallucinations - Impaired pursuit initiation and maintenance - Intention tremor - Lack of insight - Limb ataxia - Mutism - Myoclonus - Neuronal loss in central nervous system - Paranoia - Parkinsonism - Positive Romberg sign - Progressive - Rigidity - Seizures - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spinocerebellar ataxia 17 ? assistant What are the signs and symptoms of Spinocerebellar ataxia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Apraxia - Autosomal dominant inheritance - Bradykinesia - Broad-based gait - Cerebellar atrophy - Chorea - Confusion - Depression - Diffuse cerebral atrophy - Dysarthria - Dysmetria - Dysphagia - Dystonia - Frontal lobe dementia - Frontal release signs - Gait ataxia - Gaze-evoked nystagmus - Gliosis - Hallucinations - Impaired pursuit initiation and maintenance - Intention tremor - Lack of insight - Limb ataxia - Mutism - Myoclonus - Neuronal loss in central nervous system - Paranoia - Parkinsonism - Positive Romberg sign - Progressive - Rigidity - Seizures - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Ulna metaphyseal dysplasia syndrome ? | What are the signs and symptoms of Ulna metaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna metaphyseal dysplasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Delayed skeletal maturation 90% Abnormal form of the vertebral bodies 50% Abnormality of the fibula 50% Abnormality of the metacarpal bones 50% Short stature 50% Abnormality of the voice 7.5% Depressed nasal ridge 7.5% Microdontia 7.5% Nephrolithiasis 7.5% Abnormality of the vertebral column - Autosomal dominant inheritance - Coxa valga - Hypercalcemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ulna metaphyseal dysplasia syndrome ? assistant What are the signs and symptoms of Ulna metaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna metaphyseal dysplasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Delayed skeletal maturation 90% Abnormal form of the vertebral bodies 50% Abnormality of the fibula 50% Abnormality of the metacarpal bones 50% Short stature 50% Abnormality of the voice 7.5% Depressed nasal ridge 7.5% Microdontia 7.5% Nephrolithiasis 7.5% Abnormality of the vertebral column - Autosomal dominant inheritance - Coxa valga - Hypercalcemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Familial renal cell carcinoma ? | What are the signs and symptoms of Familial renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial renal cell carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Renal cell carcinoma - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Familial renal cell carcinoma ? assistant What are the signs and symptoms of Familial renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial renal cell carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Renal cell carcinoma - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Paramyotonia congenita ? | Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness. Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Paramyotonia congenita ? assistant Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness. Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern. |
What are the symptoms of Paramyotonia congenita ? | What are the signs and symptoms of Paramyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Paramyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neonatal hypotonia 5% Autosomal dominant inheritance - Feeding difficulties - Handgrip myotonia - Infantile onset - Inspiratory stridor - Muscle stiffness - Muscle weakness - Myalgia - Paradoxical myotonia - Percussion myotonia - Phenotypic variability - Skeletal muscle hypertrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Paramyotonia congenita ? assistant What are the signs and symptoms of Paramyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Paramyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neonatal hypotonia 5% Autosomal dominant inheritance - Feeding difficulties - Handgrip myotonia - Infantile onset - Inspiratory stridor - Muscle stiffness - Muscle weakness - Myalgia - Paradoxical myotonia - Percussion myotonia - Phenotypic variability - Skeletal muscle hypertrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Birdshot chorioretinopathy ? | Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina. These spots are scattered in a "birdshot" pattern. The effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness, and other vision problems. Symptoms typically begin around middle age; Caucasians are affected more than individuals of other ethnicities. The cause of birdshot chorioretinopathy is currently unknown, but it is suspected to be an autoimmune disease. Treatment may include medications that aim to regulate the body's immune response. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Birdshot chorioretinopathy ? assistant Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina. These spots are scattered in a "birdshot" pattern. The effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness, and other vision problems. Symptoms typically begin around middle age; Caucasians are affected more than individuals of other ethnicities. The cause of birdshot chorioretinopathy is currently unknown, but it is suspected to be an autoimmune disease. Treatment may include medications that aim to regulate the body's immune response. |
What are the symptoms of Birdshot chorioretinopathy ? | What are the signs and symptoms of Birdshot chorioretinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Birdshot chorioretinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chorioretinal abnormality - Posterior uveitis - Retinal pigment epithelial atrophy - Visual impairment - Vitritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Birdshot chorioretinopathy ? assistant What are the signs and symptoms of Birdshot chorioretinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Birdshot chorioretinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chorioretinal abnormality - Posterior uveitis - Retinal pigment epithelial atrophy - Visual impairment - Vitritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the treatments for Birdshot chorioretinopathy ? | What treatments are available for birdshot chorioretinopathy? Unfortunately, there is currently no cure for birdshot chorioretinopathy. Because this condition is rare, there are no established guidelines for treatment. Treatment is determined based on the severity of each affected individual's symptoms. Because birdshot chorioretinopathy is suspected to be an autoimmune disease, therapies aim to regulate the body's immune response. Therapies may include corticosteroids such as prednisone (by injection or medication taken by mouth) or medications that suppress the immune system such as cyclosporine. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Birdshot chorioretinopathy ? assistant What treatments are available for birdshot chorioretinopathy? Unfortunately, there is currently no cure for birdshot chorioretinopathy. Because this condition is rare, there are no established guidelines for treatment. Treatment is determined based on the severity of each affected individual's symptoms. Because birdshot chorioretinopathy is suspected to be an autoimmune disease, therapies aim to regulate the body's immune response. Therapies may include corticosteroids such as prednisone (by injection or medication taken by mouth) or medications that suppress the immune system such as cyclosporine. |
What are the symptoms of Patent ductus venosus ? | What are the signs and symptoms of Patent ductus venosus? The Human Phenotype Ontology provides the following list of signs and symptoms for Patent ductus venosus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital portosystemic venous shunt - Decreased liver function - Hepatic encephalopathy - Hepatic steatosis - Hyperammonemia - Hypergalactosemia - Persistent patent ductus venosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Patent ductus venosus ? assistant What are the signs and symptoms of Patent ductus venosus? The Human Phenotype Ontology provides the following list of signs and symptoms for Patent ductus venosus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital portosystemic venous shunt - Decreased liver function - Hepatic encephalopathy - Hepatic steatosis - Hyperammonemia - Hypergalactosemia - Persistent patent ductus venosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Intestinal pseudo-obstruction ? | Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Intestinal pseudo-obstruction ? assistant Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate. |
What are the symptoms of Lung agenesis ? | What are the signs and symptoms of Lung agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Respiratory insufficiency 90% Abnormal lung lobation 50% Abnormality of the aorta 50% Anomalous pulmonary venous return 50% Aplasia/Hypoplasia of the lungs 50% Atria septal defect 50% Patent ductus arteriosus 50% Abnormality of the aortic valve 7.5% Abnormality of the helix 7.5% Abnormality of the ribs 7.5% Abnormality of the tricuspid valve 7.5% Aplasia/Hypoplasia of the thumb 7.5% Complete atrioventricular canal defect 7.5% Congenital diaphragmatic hernia 7.5% Preaxial hand polydactyly 7.5% Proximal placement of thumb 7.5% Seizures 7.5% Short distal phalanx of finger 7.5% Single transverse palmar crease 7.5% Spina bifida 7.5% Triphalangeal thumb 7.5% Ventriculomegaly 7.5% Vertebral segmentation defect 7.5% Abnormality of the cardiac septa - Autosomal recessive inheritance - Bilateral lung agenesis - Coarctation of aorta - Congenital onset - Neonatal death - Tracheal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Lung agenesis ? assistant What are the signs and symptoms of Lung agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Respiratory insufficiency 90% Abnormal lung lobation 50% Abnormality of the aorta 50% Anomalous pulmonary venous return 50% Aplasia/Hypoplasia of the lungs 50% Atria septal defect 50% Patent ductus arteriosus 50% Abnormality of the aortic valve 7.5% Abnormality of the helix 7.5% Abnormality of the ribs 7.5% Abnormality of the tricuspid valve 7.5% Aplasia/Hypoplasia of the thumb 7.5% Complete atrioventricular canal defect 7.5% Congenital diaphragmatic hernia 7.5% Preaxial hand polydactyly 7.5% Proximal placement of thumb 7.5% Seizures 7.5% Short distal phalanx of finger 7.5% Single transverse palmar crease 7.5% Spina bifida 7.5% Triphalangeal thumb 7.5% Ventriculomegaly 7.5% Vertebral segmentation defect 7.5% Abnormality of the cardiac septa - Autosomal recessive inheritance - Bilateral lung agenesis - Coarctation of aorta - Congenital onset - Neonatal death - Tracheal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Littoral cell angioma of the spleen ? | Littoral cell angioma (LCA) is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, individuals with LCA have an enlarged spleen (splenomegaly), abdominal pain, fever, and portal hypertension (increased pressure in the vein that carries blood from the digestive organs to the liver). Though most reported cases of LCA have been benign, some reports have associated LCA with various other conditions including Crohn's disease, Gaucher disease, lymphoma, aplastic anemia, colon cancer, pancreatic cancer, lung cancer, and myelodysplastic syndrome. In rare cases, the LCA itself can become cancerous. The treatment of choice is usually removal of the spleen (splenectomy). | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Littoral cell angioma of the spleen ? assistant Littoral cell angioma (LCA) is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, individuals with LCA have an enlarged spleen (splenomegaly), abdominal pain, fever, and portal hypertension (increased pressure in the vein that carries blood from the digestive organs to the liver). Though most reported cases of LCA have been benign, some reports have associated LCA with various other conditions including Crohn's disease, Gaucher disease, lymphoma, aplastic anemia, colon cancer, pancreatic cancer, lung cancer, and myelodysplastic syndrome. In rare cases, the LCA itself can become cancerous. The treatment of choice is usually removal of the spleen (splenectomy). |
What are the symptoms of Late-onset retinal degeneration ? | What are the signs and symptoms of Late-onset retinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Late-onset retinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult-onset night blindness - Autosomal dominant inheritance - Retinal degeneration - Rod-cone dystrophy - Scotoma - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Late-onset retinal degeneration ? assistant What are the signs and symptoms of Late-onset retinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Late-onset retinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult-onset night blindness - Autosomal dominant inheritance - Retinal degeneration - Rod-cone dystrophy - Scotoma - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Escobar syndrome, type B ? | What are the signs and symptoms of Escobar syndrome, type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Escobar syndrome, type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Escobar syndrome, type B ? assistant What are the signs and symptoms of Escobar syndrome, type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Escobar syndrome, type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Tricho-dento-osseous syndrome ? | What are the signs and symptoms of Tricho-dento-osseous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental color 90% Abnormality of dental enamel 90% Craniofacial hyperostosis 90% Frontal bossing 90% Increased bone mineral density 90% Taurodontia 90% Woolly hair 90% Abnormality of frontal sinus 50% Abnormality of the fingernails 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the radius 50% Carious teeth 50% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Dolichocephaly 50% Malar prominence 50% Round face 50% Abnormality of the hair - Abnormality of the mastoid - Autosomal dominant inheritance - Fragile nails - Microdontia - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Tricho-dento-osseous syndrome ? assistant What are the signs and symptoms of Tricho-dento-osseous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental color 90% Abnormality of dental enamel 90% Craniofacial hyperostosis 90% Frontal bossing 90% Increased bone mineral density 90% Taurodontia 90% Woolly hair 90% Abnormality of frontal sinus 50% Abnormality of the fingernails 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the radius 50% Carious teeth 50% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Dolichocephaly 50% Malar prominence 50% Round face 50% Abnormality of the hair - Abnormality of the mastoid - Autosomal dominant inheritance - Fragile nails - Microdontia - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Frias syndrome ? | What are the signs and symptoms of Frias syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frias syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Cryptorchidism 90% Downturned corners of mouth 90% External ear malformation 90% High forehead 90% Muscular hypotonia 90% Optic atrophy 90% Scrotal hypoplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Diabetes insipidus 50% Malar flattening 50% Underdeveloped nasal alae 50% Ventriculomegaly 50% Abnormality of the metacarpal bones 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Delayed skeletal maturation 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Prenatal movement abnormality 7.5% Primary adrenal insufficiency 7.5% Renal hypoplasia/aplasia 7.5% Short toe 7.5% Single transverse palmar crease 7.5% Toe syndactyly 7.5% Cupped ear - Hypertelorism - Posteriorly rotated ears - Proptosis - Ptosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Frias syndrome ? assistant What are the signs and symptoms of Frias syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frias syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Cryptorchidism 90% Downturned corners of mouth 90% External ear malformation 90% High forehead 90% Muscular hypotonia 90% Optic atrophy 90% Scrotal hypoplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Diabetes insipidus 50% Malar flattening 50% Underdeveloped nasal alae 50% Ventriculomegaly 50% Abnormality of the metacarpal bones 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Delayed skeletal maturation 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Prenatal movement abnormality 7.5% Primary adrenal insufficiency 7.5% Renal hypoplasia/aplasia 7.5% Short toe 7.5% Single transverse palmar crease 7.5% Toe syndactyly 7.5% Cupped ear - Hypertelorism - Posteriorly rotated ears - Proptosis - Ptosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Hairy elbows ? | What are the signs and symptoms of Hairy elbows? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy elbows. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the elbow 90% Abnormality of the mandible 90% Hypertrichosis 90% Micromelia 90% Short stature 90% Facial asymmetry 50% Neurological speech impairment 50% Round face 50% Abnormality of the neck 7.5% Cognitive impairment 7.5% Delayed skeletal maturation 7.5% High forehead 7.5% Joint hypermobility 7.5% Microcephaly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Thick eyebrow 7.5% Autosomal dominant inheritance - Elbow hypertrichosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hairy elbows ? assistant What are the signs and symptoms of Hairy elbows? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy elbows. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the elbow 90% Abnormality of the mandible 90% Hypertrichosis 90% Micromelia 90% Short stature 90% Facial asymmetry 50% Neurological speech impairment 50% Round face 50% Abnormality of the neck 7.5% Cognitive impairment 7.5% Delayed skeletal maturation 7.5% High forehead 7.5% Joint hypermobility 7.5% Microcephaly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Thick eyebrow 7.5% Autosomal dominant inheritance - Elbow hypertrichosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Kozlowski Celermajer Tink syndrome ? | What are the signs and symptoms of Kozlowski Celermajer Tink syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kozlowski Celermajer Tink syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Kozlowski Celermajer Tink syndrome ? assistant What are the signs and symptoms of Kozlowski Celermajer Tink syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kozlowski Celermajer Tink syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Wolff-Parkinson-White syndrome ? | Wolff-Parkinson-White syndrome is a condition that disrupts the heart's normal rhythm (arrhythmia). People with Wolff-Parkinson-White syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This abnormality leads to an abnormally fast heartbeat (tachycardia) and other arrhythmias. In most cases, the cause of Wolff-Parkinson-White syndrome is unknown. A small percentage of cases are caused by mutations in the PRKAG2 gene. These cases appear to be inherited in an autosomal dominant manner. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Wolff-Parkinson-White syndrome ? assistant Wolff-Parkinson-White syndrome is a condition that disrupts the heart's normal rhythm (arrhythmia). People with Wolff-Parkinson-White syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This abnormality leads to an abnormally fast heartbeat (tachycardia) and other arrhythmias. In most cases, the cause of Wolff-Parkinson-White syndrome is unknown. A small percentage of cases are caused by mutations in the PRKAG2 gene. These cases appear to be inherited in an autosomal dominant manner. |
What are the symptoms of Wolff-Parkinson-White syndrome ? | What are the signs and symptoms of Wolff-Parkinson-White syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolff-Parkinson-White syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Cardiomyopathy - Palpitations - Paroxysmal atrial fibrillation - Paroxysmal supraventricular tachycardia - Prolonged QRS complex - Shortened PR interval - Stroke - Sudden cardiac death - Ventricular preexcitation with multiple accessory pathways - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Wolff-Parkinson-White syndrome ? assistant What are the signs and symptoms of Wolff-Parkinson-White syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolff-Parkinson-White syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Cardiomyopathy - Palpitations - Paroxysmal atrial fibrillation - Paroxysmal supraventricular tachycardia - Prolonged QRS complex - Shortened PR interval - Stroke - Sudden cardiac death - Ventricular preexcitation with multiple accessory pathways - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes Wolff-Parkinson-White syndrome ? | What causes Wolff-Parkinson-White syndrome? Normally, electrical signals in the heart go through a pathway that helps the heart beat regularly. The wiring of the heart prevents extra beats from occurring and keeps the next beat from happening too soon. In people with Wolff Parkinson White syndrome, there is an extra, or accessory, pathway that may cause a very rapid heart rate. This extra electrical pathway is present at birth. A mutation in the PRKAG2 gene is the cause of a small percentage of cases of the disorder. Otherwise, little is known about why this extra pathway develops. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Wolff-Parkinson-White syndrome ? assistant What causes Wolff-Parkinson-White syndrome? Normally, electrical signals in the heart go through a pathway that helps the heart beat regularly. The wiring of the heart prevents extra beats from occurring and keeps the next beat from happening too soon. In people with Wolff Parkinson White syndrome, there is an extra, or accessory, pathway that may cause a very rapid heart rate. This extra electrical pathway is present at birth. A mutation in the PRKAG2 gene is the cause of a small percentage of cases of the disorder. Otherwise, little is known about why this extra pathway develops. |
Is Wolff-Parkinson-White syndrome inherited ? | Is Wolff-Parkinson-White syndrome inherited? | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Wolff-Parkinson-White syndrome inherited ? assistant Is Wolff-Parkinson-White syndrome inherited? |
What are the symptoms of Taurodontism, microdontia, and dens invaginatus ? | What are the signs and symptoms of Taurodontism, microdontia, and dens invaginatus? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontism, microdontia, and dens invaginatus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Microdontia - Pulp stones - Taurodontia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Taurodontism, microdontia, and dens invaginatus ? assistant What are the signs and symptoms of Taurodontism, microdontia, and dens invaginatus? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontism, microdontia, and dens invaginatus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Microdontia - Pulp stones - Taurodontia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Pontocerebellar hypoplasia type 2 ? | Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Pontocerebellar hypoplasia type 2 ? assistant Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person. |
What are the symptoms of Pontocerebellar hypoplasia type 2 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in childhood 7.5% Cerebral atrophy 5% Cerebral cortical atrophy 5% Cortical gyral simplification 5% Ventriculomegaly 5% Abnormality of the periventricular white matter - Autosomal recessive inheritance - Babinski sign - Cerebellar hemisphere hypoplasia - Cerebellar hypoplasia - Cerebellar vermis hypoplasia - Chorea - Clonus - Congenital onset - Dystonia - Extrapyramidal dyskinesia - Feeding difficulties - Gliosis - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the pons - Impaired smooth pursuit - Limb hypertonia - Microcephaly - Muscular hypotonia of the trunk - Opisthotonus - Poor suck - Progressive microcephaly - Restlessness - Seizures - Severe global developmental delay - Sloping forehead - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Pontocerebellar hypoplasia type 2 ? assistant What are the signs and symptoms of Pontocerebellar hypoplasia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in childhood 7.5% Cerebral atrophy 5% Cerebral cortical atrophy 5% Cortical gyral simplification 5% Ventriculomegaly 5% Abnormality of the periventricular white matter - Autosomal recessive inheritance - Babinski sign - Cerebellar hemisphere hypoplasia - Cerebellar hypoplasia - Cerebellar vermis hypoplasia - Chorea - Clonus - Congenital onset - Dystonia - Extrapyramidal dyskinesia - Feeding difficulties - Gliosis - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the pons - Impaired smooth pursuit - Limb hypertonia - Microcephaly - Muscular hypotonia of the trunk - Opisthotonus - Poor suck - Progressive microcephaly - Restlessness - Seizures - Severe global developmental delay - Sloping forehead - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Baraitser Brett Piesowicz syndrome ? | What are the signs and symptoms of Baraitser Brett Piesowicz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser Brett Piesowicz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Baraitser Brett Piesowicz syndrome ? assistant What are the signs and symptoms of Baraitser Brett Piesowicz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser Brett Piesowicz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Alpha-mannosidosis type 1 ? | What are the signs and symptoms of Alpha-mannosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-mannosidosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tongue 90% Cataract 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Hearing impairment 90% Hepatomegaly 90% Opacification of the corneal stroma 90% Skeletal dysplasia 90% Splenomegaly 90% Type II diabetes mellitus 90% Abnormality of the helix 50% Abnormality of the hip bone 50% Abnormality of the palate 50% Bowing of the long bones 50% Dental malocclusion 50% Gingival overgrowth 50% Hernia of the abdominal wall 50% Hypertelorism 50% Kyphosis 50% Macrotia 50% Muscular hypotonia 50% Otitis media 50% Prominent supraorbital ridges 50% Scoliosis 50% Short neck 50% Arthritis 7.5% Aseptic necrosis 7.5% Hallucinations 7.5% Increased intracranial pressure 7.5% Macrocephaly 7.5% Mandibular prognathia 7.5% Recurrent respiratory infections 7.5% Synostosis of joints 7.5% Abnormality of the rib cage - Autosomal recessive inheritance - Babinski sign - Broad forehead - Cerebellar atrophy - Decreased antibody level in blood - Depressed nasal ridge - Dysarthria - Dysostosis multiplex - Epicanthus - Femoral bowing - Flat occiput - Frontal bossing - Gait ataxia - Growth delay - Hyperreflexia - Hypertrichosis - Hypoplasia of midface - Impaired smooth pursuit - Increased vertebral height - Inguinal hernia - Intellectual disability - Limb ataxia - Low anterior hairline - Macroglossia - Malar flattening - Nystagmus - Pectus carinatum - Progressive retinal degeneration - Recurrent bacterial infections - Sensorineural hearing impairment - Spasticity - Spinocerebellar tract disease in lower limbs - Spondylolisthesis - Thick eyebrow - Thickened calvaria - Thoracolumbar kyphosis - Vacuolated lymphocytes - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Alpha-mannosidosis type 1 ? assistant What are the signs and symptoms of Alpha-mannosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-mannosidosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tongue 90% Cataract 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Hearing impairment 90% Hepatomegaly 90% Opacification of the corneal stroma 90% Skeletal dysplasia 90% Splenomegaly 90% Type II diabetes mellitus 90% Abnormality of the helix 50% Abnormality of the hip bone 50% Abnormality of the palate 50% Bowing of the long bones 50% Dental malocclusion 50% Gingival overgrowth 50% Hernia of the abdominal wall 50% Hypertelorism 50% Kyphosis 50% Macrotia 50% Muscular hypotonia 50% Otitis media 50% Prominent supraorbital ridges 50% Scoliosis 50% Short neck 50% Arthritis 7.5% Aseptic necrosis 7.5% Hallucinations 7.5% Increased intracranial pressure 7.5% Macrocephaly 7.5% Mandibular prognathia 7.5% Recurrent respiratory infections 7.5% Synostosis of joints 7.5% Abnormality of the rib cage - Autosomal recessive inheritance - Babinski sign - Broad forehead - Cerebellar atrophy - Decreased antibody level in blood - Depressed nasal ridge - Dysarthria - Dysostosis multiplex - Epicanthus - Femoral bowing - Flat occiput - Frontal bossing - Gait ataxia - Growth delay - Hyperreflexia - Hypertrichosis - Hypoplasia of midface - Impaired smooth pursuit - Increased vertebral height - Inguinal hernia - Intellectual disability - Limb ataxia - Low anterior hairline - Macroglossia - Malar flattening - Nystagmus - Pectus carinatum - Progressive retinal degeneration - Recurrent bacterial infections - Sensorineural hearing impairment - Spasticity - Spinocerebellar tract disease in lower limbs - Spondylolisthesis - Thick eyebrow - Thickened calvaria - Thoracolumbar kyphosis - Vacuolated lymphocytes - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Harrod Doman Keele syndrome ? | What are the signs and symptoms of Harrod Doman Keele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Harrod Doman Keele syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the palate 90% Abnormality of the pinna 90% Abnormality of the teeth 90% Arachnodactyly 90% Cognitive impairment 90% Hypotelorism 90% Intrauterine growth retardation 90% Long face 90% Microcephaly 90% Narrow face 90% Narrow mouth 90% Pointed chin 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the shoulder 50% Cataract 50% Cerebral cortical atrophy 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hypopigmented skin patches 50% Joint hypermobility 50% Kyphosis 50% Multicystic kidney dysplasia 50% Scoliosis 50% Seizures 50% Abnormal facial shape - Aganglionic megacolon - Dental malocclusion - External genital hypoplasia - Failure to thrive - High palate - Hypospadias - Intellectual disability - Long nose - Macrotia - Malrotation of small bowel - Pyloric stenosis - Renal cortical microcysts - Varicose veins - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Harrod Doman Keele syndrome ? assistant What are the signs and symptoms of Harrod Doman Keele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Harrod Doman Keele syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the palate 90% Abnormality of the pinna 90% Abnormality of the teeth 90% Arachnodactyly 90% Cognitive impairment 90% Hypotelorism 90% Intrauterine growth retardation 90% Long face 90% Microcephaly 90% Narrow face 90% Narrow mouth 90% Pointed chin 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the shoulder 50% Cataract 50% Cerebral cortical atrophy 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hypopigmented skin patches 50% Joint hypermobility 50% Kyphosis 50% Multicystic kidney dysplasia 50% Scoliosis 50% Seizures 50% Abnormal facial shape - Aganglionic megacolon - Dental malocclusion - External genital hypoplasia - Failure to thrive - High palate - Hypospadias - Intellectual disability - Long nose - Macrotia - Malrotation of small bowel - Pyloric stenosis - Renal cortical microcysts - Varicose veins - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome ? | What are the signs and symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fibula 90% Abnormality of the tibia 90% Absent hand 90% Abnormality of the cardiovascular system 50% Finger syndactyly 50% Premature birth 50% Respiratory insufficiency 50% Short stature 50% Split hand 50% Tarsal synostosis 50% Abnormality of the hand - Autosomal dominant inheritance - Fibular aplasia - Oligodactyly (feet) - Oligodactyly (hands) - Phenotypic variability - Shortening of the tibia - Syndactyly - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome ? assistant What are the signs and symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fibula 90% Abnormality of the tibia 90% Absent hand 90% Abnormality of the cardiovascular system 50% Finger syndactyly 50% Premature birth 50% Respiratory insufficiency 50% Short stature 50% Split hand 50% Tarsal synostosis 50% Abnormality of the hand - Autosomal dominant inheritance - Fibular aplasia - Oligodactyly (feet) - Oligodactyly (hands) - Phenotypic variability - Shortening of the tibia - Syndactyly - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Williams syndrome ? | Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. Williams syndrome is caused by missing genes from a specific region of chromosome 7. The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Williams syndrome ? assistant Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. Williams syndrome is caused by missing genes from a specific region of chromosome 7. The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. |
What are the symptoms of Williams syndrome ? | What are the signs and symptoms of Williams syndrome? The signs and symptoms of Williams syndrome can be variable, but the disorder is generally characterized by mild to moderate intellectual disability a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder. The most significant medical problem associated with Williams syndrome is a form of cardiovascular disease called supravalvular aortic stenosis (SVAS). SVAS is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome. Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as small, widely spaced teeth and teeth that are crooked or missing. In older children and adults, the face appears longer and more gaunt. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected children may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible. The Human Phenotype Ontology provides the following list of signs and symptoms for Williams syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormal nasal morphology 90% Abnormality of extrapyramidal motor function 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the aortic valve 90% Abnormality of the neck 90% Abnormality of the tongue 90% Abnormality of the voice 90% Attention deficit hyperactivity disorder 90% Blepharophimosis 90% Broad forehead 90% Coarse facial features 90% Cognitive impairment 90% Dental malocclusion 90% Elfin facies 90% Epicanthus 90% Gait disturbance 90% High forehead 90% Hyperacusis 90% Hypercalcemia 90% Hypermetropia 90% Hyperreflexia 90% Incoordination 90% Involuntary movements 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Narrow face 90% Neurological speech impairment 90% Periorbital edema 90% Pointed chin 90% Short stature 90% Thick lower lip vermilion 90% Tremor 90% Wide mouth 90% Anxiety 80% Constipation 75% Coronary artery stenosis 75% Diabetes mellitus 75% Flexion contracture 75% Gastroesophageal reflux 75% Hypodontia 75% Intellectual disability 75% Joint laxity 75% Mitral regurgitation 75% Mitral valve prolapse 75% Muscular hypotonia 75% Osteopenia 75% Osteoporosis 75% Peripheral pulmonary artery stenosis 75% Premature graying of hair 75% Pulmonic stenosis 75% Rectal prolapse 75% Recurrent otitis media 75% Recurrent urinary tract infections 75% Strabismus 75% Supravalvular aortic stenosis 75% Failure to thrive in infancy 70% Abnormal localization of kidney 50% Abnormality of dental enamel 50% Abnormality of the fingernails 50% Abnormality of the mitral valve 50% Abnormality of the pulmonary artery 50% Abnormality of the shoulder 50% Arthralgia 50% Autism 50% Blue irides 50% Bowel diverticulosis 50% Broad nasal tip 50% Cerebral ischemia 50% Clinodactyly of the 5th finger 50% Cutis laxa 50% Depressed nasal bridge 50% Down-sloping shoulders 50% Early onset of sexual maturation 50% Feeding difficulties in infancy 50% Full cheeks 50% Genu valgum 50% Hallux valgus 50% Hoarse voice 50% Hypercalciuria 50% Hyperlordosis 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Hypoplastic toenails 50% Impaired visuospatial constructive cognition 50% Insomnia 50% Kyphosis 50% Large earlobe 50% Limitation of joint mobility 50% Medial flaring of the eyebrow 50% Microcephaly 50% Microdontia 50% Narrow forehead 50% Nausea and vomiting 50% Obesity 50% Obsessive-compulsive behavior 50% Open mouth 50% Otitis media 50% Periorbital fullness 50% Pes planus 50% Phonophobia 50% Proteinuria 50% Reduced number of teeth 50% Renal insufficiency 50% Renovascular hypertension 50% Sacral dimple 50% Sensorineural hearing impairment 50% Short nose 50% Small nail 50% Soft skin 50% Urethral stenosis 50% Visual impairment 50% Bladder diverticulum 33% Gait imbalance 33% Kyphoscoliosis 33% Colonic diverticula 30% Myxomatous mitral valve degeneration 20% Cerebellar hypoplasia 15% Arnold-Chiari type I malformation 10% Hypothyroidism 10% Nephrocalcinosis 10% Abnormal dermatoglyphics 7.5% Abnormal form of the vertebral bodies 7.5% Abnormality of lipid metabolism 7.5% Abnormality of refraction 7.5% Abnormality of the ankles 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the diencephalon 7.5% Abnormality of the endocardium 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of the retinal vasculature 7.5% Abnormality of the urethra 7.5% Adducted thumb 7.5% Amblyopia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the iris 7.5% Arnold-Chiari malformation 7.5% Atria septal defect 7.5% Biliary tract abnormality 7.5% Cardiomegaly 7.5% Carious teeth 7.5% Cataract 7.5% Celiac disease 7.5% Cerebral cortical atrophy 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cryptorchidism 7.5% Delayed skeletal maturation 7.5% Developmental regression 7.5% Flat cornea 7.5% Functional abnormality of male internal genitalia 7.5% Gingival overgrowth 7.5% Glaucoma 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplasia of penis 7.5% Hypotelorism 7.5% Increased bone mineral density 7.5% Increased nuchal translucency 7.5% Inguinal hernia 7.5% Joint hypermobility 7.5% Lacrimation abnormality 7.5% Malabsorption 7.5% Malar flattening 7.5% Megalocornea 7.5% Micropenis 7.5% Myopathy 7.5% Myopia 7.5% Nephrolithiasis 7.5% Opacification of the corneal stroma 7.5% Overriding aorta 7.5% Patellar dislocation 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Polycystic kidney dysplasia 7.5% Polycystic ovaries 7.5% Portal hypertension 7.5% Posterior embryotoxon 7.5% Precocious puberty 7.5% Prematurely aged appearance 7.5% Radioulnar synostosis 7.5% Recurrent respiratory infections 7.5% Reduced bone mineral density 7.5% Renal duplication 7.5% Renal hypoplasia/aplasia 7.5% Retinal arteriolar tortuosity 7.5% Scoliosis 7.5% Sleep disturbance 7.5% Spina bifida occulta 7.5% Sudden cardiac death 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Type II diabetes mellitus 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Vertebral segmentation defect 7.5% Vesicoureteral reflux 7.5% Vocal cord paralysis 7.5% Renal artery stenosis 5% Stroke 1% Sudden death 1% Autosomal dominant inheritance - Bicuspid aortic valve - Chronic constipation - Enuresis - Flat midface - Glucose intolerance - Intrauterine growth retardation - Obsessive-compulsive trait - Pelvic kidney - Poor coordination - Renal hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Williams syndrome ? assistant What are the signs and symptoms of Williams syndrome? The signs and symptoms of Williams syndrome can be variable, but the disorder is generally characterized by mild to moderate intellectual disability a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder. The most significant medical problem associated with Williams syndrome is a form of cardiovascular disease called supravalvular aortic stenosis (SVAS). SVAS is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome. Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as small, widely spaced teeth and teeth that are crooked or missing. In older children and adults, the face appears longer and more gaunt. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected children may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible. The Human Phenotype Ontology provides the following list of signs and symptoms for Williams syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormal nasal morphology 90% Abnormality of extrapyramidal motor function 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the aortic valve 90% Abnormality of the neck 90% Abnormality of the tongue 90% Abnormality of the voice 90% Attention deficit hyperactivity disorder 90% Blepharophimosis 90% Broad forehead 90% Coarse facial features 90% Cognitive impairment 90% Dental malocclusion 90% Elfin facies 90% Epicanthus 90% Gait disturbance 90% High forehead 90% Hyperacusis 90% Hypercalcemia 90% Hypermetropia 90% Hyperreflexia 90% Incoordination 90% Involuntary movements 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Narrow face 90% Neurological speech impairment 90% Periorbital edema 90% Pointed chin 90% Short stature 90% Thick lower lip vermilion 90% Tremor 90% Wide mouth 90% Anxiety 80% Constipation 75% Coronary artery stenosis 75% Diabetes mellitus 75% Flexion contracture 75% Gastroesophageal reflux 75% Hypodontia 75% Intellectual disability 75% Joint laxity 75% Mitral regurgitation 75% Mitral valve prolapse 75% Muscular hypotonia 75% Osteopenia 75% Osteoporosis 75% Peripheral pulmonary artery stenosis 75% Premature graying of hair 75% Pulmonic stenosis 75% Rectal prolapse 75% Recurrent otitis media 75% Recurrent urinary tract infections 75% Strabismus 75% Supravalvular aortic stenosis 75% Failure to thrive in infancy 70% Abnormal localization of kidney 50% Abnormality of dental enamel 50% Abnormality of the fingernails 50% Abnormality of the mitral valve 50% Abnormality of the pulmonary artery 50% Abnormality of the shoulder 50% Arthralgia 50% Autism 50% Blue irides 50% Bowel diverticulosis 50% Broad nasal tip 50% Cerebral ischemia 50% Clinodactyly of the 5th finger 50% Cutis laxa 50% Depressed nasal bridge 50% Down-sloping shoulders 50% Early onset of sexual maturation 50% Feeding difficulties in infancy 50% Full cheeks 50% Genu valgum 50% Hallux valgus 50% Hoarse voice 50% Hypercalciuria 50% Hyperlordosis 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Hypoplastic toenails 50% Impaired visuospatial constructive cognition 50% Insomnia 50% Kyphosis 50% Large earlobe 50% Limitation of joint mobility 50% Medial flaring of the eyebrow 50% Microcephaly 50% Microdontia 50% Narrow forehead 50% Nausea and vomiting 50% Obesity 50% Obsessive-compulsive behavior 50% Open mouth 50% Otitis media 50% Periorbital fullness 50% Pes planus 50% Phonophobia 50% Proteinuria 50% Reduced number of teeth 50% Renal insufficiency 50% Renovascular hypertension 50% Sacral dimple 50% Sensorineural hearing impairment 50% Short nose 50% Small nail 50% Soft skin 50% Urethral stenosis 50% Visual impairment 50% Bladder diverticulum 33% Gait imbalance 33% Kyphoscoliosis 33% Colonic diverticula 30% Myxomatous mitral valve degeneration 20% Cerebellar hypoplasia 15% Arnold-Chiari type I malformation 10% Hypothyroidism 10% Nephrocalcinosis 10% Abnormal dermatoglyphics 7.5% Abnormal form of the vertebral bodies 7.5% Abnormality of lipid metabolism 7.5% Abnormality of refraction 7.5% Abnormality of the ankles 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the diencephalon 7.5% Abnormality of the endocardium 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of the retinal vasculature 7.5% Abnormality of the urethra 7.5% Adducted thumb 7.5% Amblyopia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the iris 7.5% Arnold-Chiari malformation 7.5% Atria septal defect 7.5% Biliary tract abnormality 7.5% Cardiomegaly 7.5% Carious teeth 7.5% Cataract 7.5% Celiac disease 7.5% Cerebral cortical atrophy 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cryptorchidism 7.5% Delayed skeletal maturation 7.5% Developmental regression 7.5% Flat cornea 7.5% Functional abnormality of male internal genitalia 7.5% Gingival overgrowth 7.5% Glaucoma 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplasia of penis 7.5% Hypotelorism 7.5% Increased bone mineral density 7.5% Increased nuchal translucency 7.5% Inguinal hernia 7.5% Joint hypermobility 7.5% Lacrimation abnormality 7.5% Malabsorption 7.5% Malar flattening 7.5% Megalocornea 7.5% Micropenis 7.5% Myopathy 7.5% Myopia 7.5% Nephrolithiasis 7.5% Opacification of the corneal stroma 7.5% Overriding aorta 7.5% Patellar dislocation 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Polycystic kidney dysplasia 7.5% Polycystic ovaries 7.5% Portal hypertension 7.5% Posterior embryotoxon 7.5% Precocious puberty 7.5% Prematurely aged appearance 7.5% Radioulnar synostosis 7.5% Recurrent respiratory infections 7.5% Reduced bone mineral density 7.5% Renal duplication 7.5% Renal hypoplasia/aplasia 7.5% Retinal arteriolar tortuosity 7.5% Scoliosis 7.5% Sleep disturbance 7.5% Spina bifida occulta 7.5% Sudden cardiac death 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Type II diabetes mellitus 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Vertebral segmentation defect 7.5% Vesicoureteral reflux 7.5% Vocal cord paralysis 7.5% Renal artery stenosis 5% Stroke 1% Sudden death 1% Autosomal dominant inheritance - Bicuspid aortic valve - Chronic constipation - Enuresis - Flat midface - Glucose intolerance - Intrauterine growth retardation - Obsessive-compulsive trait - Pelvic kidney - Poor coordination - Renal hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes Williams syndrome ? | What causes Williams syndrome? Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that the loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this condition. Studies suggest that deletions of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition. Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension. The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is unknown. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Williams syndrome ? assistant What causes Williams syndrome? Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that the loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this condition. Studies suggest that deletions of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition. Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension. The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is unknown. |
Is Williams syndrome inherited ? | Is Williams syndrome inherited? | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Williams syndrome inherited ? assistant Is Williams syndrome inherited? |
What is (are) Chromosome 6p deletion ? | Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Chromosome 6p deletion ? assistant Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. |
What are the symptoms of Short stature syndrome, Brussels type ? | What are the signs and symptoms of Short stature syndrome, Brussels type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short stature syndrome, Brussels type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Delayed epiphyseal ossification - Horseshoe kidney - Microretrognathia - Narrow chest - Relative macrocephaly - Short stature - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Short stature syndrome, Brussels type ? assistant What are the signs and symptoms of Short stature syndrome, Brussels type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short stature syndrome, Brussels type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Delayed epiphyseal ossification - Horseshoe kidney - Microretrognathia - Narrow chest - Relative macrocephaly - Short stature - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Ectodermal dysplasia skin fragility syndrome ? | What are the signs and symptoms of Ectodermal dysplasia skin fragility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia skin fragility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the eyebrow 90% Abnormality of the nail 90% Alopecia 90% Palmoplantar keratoderma 90% Skin ulcer 90% Blepharitis 50% Dry skin 50% Furrowed tongue 50% Malabsorption 50% Pruritus 50% Woolly hair 7.5% Ectodermal dysplasia - Fragile skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ectodermal dysplasia skin fragility syndrome ? assistant What are the signs and symptoms of Ectodermal dysplasia skin fragility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia skin fragility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the eyebrow 90% Abnormality of the nail 90% Alopecia 90% Palmoplantar keratoderma 90% Skin ulcer 90% Blepharitis 50% Dry skin 50% Furrowed tongue 50% Malabsorption 50% Pruritus 50% Woolly hair 7.5% Ectodermal dysplasia - Fragile skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Johnson Munson syndrome ? | What are the signs and symptoms of Johnson Munson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson Munson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adactyly 90% Split foot 90% Vertebral segmentation defect 90% Abnormality of female external genitalia 50% Abnormality of pelvic girdle bone morphology 50% Abnormality of the metacarpal bones 50% Anonychia 50% Aplasia/Hypoplasia of the lungs 50% Asymmetry of the thorax 50% Elbow dislocation 50% Finger syndactyly 50% Oligohydramnios 50% Patent ductus arteriosus 50% Renal hypoplasia/aplasia 50% Toe syndactyly 50% Vaginal fistula 50% Aphalangy of hands and feet - Aphalangy of the hands - Aplasia of the phalanges of the toes - Autosomal recessive inheritance - Hemivertebrae - Pulmonary hypoplasia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Johnson Munson syndrome ? assistant What are the signs and symptoms of Johnson Munson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson Munson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adactyly 90% Split foot 90% Vertebral segmentation defect 90% Abnormality of female external genitalia 50% Abnormality of pelvic girdle bone morphology 50% Abnormality of the metacarpal bones 50% Anonychia 50% Aplasia/Hypoplasia of the lungs 50% Asymmetry of the thorax 50% Elbow dislocation 50% Finger syndactyly 50% Oligohydramnios 50% Patent ductus arteriosus 50% Renal hypoplasia/aplasia 50% Toe syndactyly 50% Vaginal fistula 50% Aphalangy of hands and feet - Aphalangy of the hands - Aplasia of the phalanges of the toes - Autosomal recessive inheritance - Hemivertebrae - Pulmonary hypoplasia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Hypomelia mullerian duct anomalies ? | What are the signs and symptoms of Hypomelia mullerian duct anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomelia mullerian duct anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 50% Abnormality of female internal genitalia 50% Abnormality of the elbow 50% Abnormality of the humerus 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Hypoplasia of penis 50% Microcephaly 50% Micromelia 50% Short stature 50% Split hand 50% Hypothyroidism 7.5% Postaxial hand polydactyly 7.5% Strabismus 7.5% Autosomal dominant inheritance - Longitudinal vaginal septum - Uterus didelphys - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hypomelia mullerian duct anomalies ? assistant What are the signs and symptoms of Hypomelia mullerian duct anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomelia mullerian duct anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 50% Abnormality of female internal genitalia 50% Abnormality of the elbow 50% Abnormality of the humerus 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Hypoplasia of penis 50% Microcephaly 50% Micromelia 50% Short stature 50% Split hand 50% Hypothyroidism 7.5% Postaxial hand polydactyly 7.5% Strabismus 7.5% Autosomal dominant inheritance - Longitudinal vaginal septum - Uterus didelphys - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Infantile convulsions and paroxysmal choreoathetosis, familial ? | What are the signs and symptoms of Infantile convulsions and paroxysmal choreoathetosis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile convulsions and paroxysmal choreoathetosis, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chorea 90% EEG abnormality 90% Seizures 90% Incoordination 50% Migraine 50% Stereotypic behavior 7.5% Anxiety - Autosomal dominant inheritance - Focal seizures, afebril - Generalized seizures - Normal interictal EEG - Paroxysmal choreoathetosis - Paroxysmal dystonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Infantile convulsions and paroxysmal choreoathetosis, familial ? assistant What are the signs and symptoms of Infantile convulsions and paroxysmal choreoathetosis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile convulsions and paroxysmal choreoathetosis, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chorea 90% EEG abnormality 90% Seizures 90% Incoordination 50% Migraine 50% Stereotypic behavior 7.5% Anxiety - Autosomal dominant inheritance - Focal seizures, afebril - Generalized seizures - Normal interictal EEG - Paroxysmal choreoathetosis - Paroxysmal dystonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Swyer-James syndrome ? | Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries. Affected individuals may not have any symptoms, or more commonly, they may have recurrent pulmonary infections and common respiratory symptoms. The cause of the condition is not completely understood. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Swyer-James syndrome ? assistant Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries. Affected individuals may not have any symptoms, or more commonly, they may have recurrent pulmonary infections and common respiratory symptoms. The cause of the condition is not completely understood. |
What are the symptoms of Swyer-James syndrome ? | What are the signs and symptoms of Swyer-James syndrome? Individuals with Swyer-James syndrome may not have any symptoms, but affected individuals can have chronic or recurring lung infections, shortness of breath (dyspnea) when performing an activity, coughing up of blood (hemoptysis), and even severe respiratory impairment. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Swyer-James syndrome ? assistant What are the signs and symptoms of Swyer-James syndrome? Individuals with Swyer-James syndrome may not have any symptoms, but affected individuals can have chronic or recurring lung infections, shortness of breath (dyspnea) when performing an activity, coughing up of blood (hemoptysis), and even severe respiratory impairment. |
What causes Swyer-James syndrome ? | What causes Swyer-James syndrome? The cause of Swyer-James syndrome is not completely understood. Most experts agree that the initial abnormality occurs in the distal bronchi (air tubes that bring air to and from the lungs) after an infection during early childhood. The smaller size of the affected lung may be due to the infection inhibiting the normal growth of the lung. A number of reports have described Swyer-James syndrome following childhood histories including radiation therapy; measles; pertussis (whooping cough); tuberculosis; breathing in a foreign body; mycoplasma; and viral infections, especially adenovirus. Research has suggested that a hyper-immune reaction in the lung (producing an unusual abundance of antibodies) may play a role in sustaining airway damage after the initial infection. Some have argued a pre-existing lung abnormality may predispose individuals to the condition. Although bronchial damage of some kind during childhood is generally considered to play an important role, many affected individuals have had no known history of an airway infection. It is possible that some unknown factors present at birth may contribute to the development of Swyer-James syndrome. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Swyer-James syndrome ? assistant What causes Swyer-James syndrome? The cause of Swyer-James syndrome is not completely understood. Most experts agree that the initial abnormality occurs in the distal bronchi (air tubes that bring air to and from the lungs) after an infection during early childhood. The smaller size of the affected lung may be due to the infection inhibiting the normal growth of the lung. A number of reports have described Swyer-James syndrome following childhood histories including radiation therapy; measles; pertussis (whooping cough); tuberculosis; breathing in a foreign body; mycoplasma; and viral infections, especially adenovirus. Research has suggested that a hyper-immune reaction in the lung (producing an unusual abundance of antibodies) may play a role in sustaining airway damage after the initial infection. Some have argued a pre-existing lung abnormality may predispose individuals to the condition. Although bronchial damage of some kind during childhood is generally considered to play an important role, many affected individuals have had no known history of an airway infection. It is possible that some unknown factors present at birth may contribute to the development of Swyer-James syndrome. |
What are the treatments for Swyer-James syndrome ? | How might Swyer-James syndrome be treated? Individuals with Swyer-James syndrome reportedly have been treated conservatively in the past. However, although there are few reports published, it has been recognized that surgical treatment should be considered when infections cannot be controlled. There have been reports of affected individuals being treated with pneumonectomy (removal of a lung), lobectomy (removal of one or more lobes of a lung) or segmentectomy (removal of a specific segment). It has been proposed that individuals with Swyer-James syndrome may benefit from lung volume reduction surgery (LVRS), a procedure in which damaged tissue is removed from the lung. LVRS was reportedly performed successfully in an individual with Swyer-James syndrome, and it has been suggested that the procedure could be used for managing the condition in other affected individuals because it has shown to be effective for improving pulmonary function and symptoms. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Swyer-James syndrome ? assistant How might Swyer-James syndrome be treated? Individuals with Swyer-James syndrome reportedly have been treated conservatively in the past. However, although there are few reports published, it has been recognized that surgical treatment should be considered when infections cannot be controlled. There have been reports of affected individuals being treated with pneumonectomy (removal of a lung), lobectomy (removal of one or more lobes of a lung) or segmentectomy (removal of a specific segment). It has been proposed that individuals with Swyer-James syndrome may benefit from lung volume reduction surgery (LVRS), a procedure in which damaged tissue is removed from the lung. LVRS was reportedly performed successfully in an individual with Swyer-James syndrome, and it has been suggested that the procedure could be used for managing the condition in other affected individuals because it has shown to be effective for improving pulmonary function and symptoms. |
What are the symptoms of Robinow Sorauf syndrome ? | What are the signs and symptoms of Robinow Sorauf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow Sorauf syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Broad hallux - Duplication of phalanx of hallux - Hypertelorism - Long nose - Malar flattening - Narrow nose - Plagiocephaly - Shallow orbits - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Robinow Sorauf syndrome ? assistant What are the signs and symptoms of Robinow Sorauf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow Sorauf syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Broad hallux - Duplication of phalanx of hallux - Hypertelorism - Long nose - Malar flattening - Narrow nose - Plagiocephaly - Shallow orbits - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Cataracts, ataxia, short stature, and mental retardation ? | What are the signs and symptoms of Cataracts, ataxia, short stature, and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataracts, ataxia, short stature, and mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Dysarthria - Intellectual disability - Muscle weakness - Muscular hypotonia - Posterior subcapsular cataract - Postural tremor - Short stature - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Cataracts, ataxia, short stature, and mental retardation ? assistant What are the signs and symptoms of Cataracts, ataxia, short stature, and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataracts, ataxia, short stature, and mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Dysarthria - Intellectual disability - Muscle weakness - Muscular hypotonia - Posterior subcapsular cataract - Postural tremor - Short stature - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Hirschsprung disease type 3 ? | What are the signs and symptoms of Hirschsprung disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hirschsprung disease type 3 ? assistant What are the signs and symptoms of Hirschsprung disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Ornithine translocase deficiency syndrome ? | What are the signs and symptoms of Ornithine translocase deficiency syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine translocase deficiency syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Chorioretinal atrophy 1% Abnormal pyramidal signs - Acute encephalopathy - Acute hepatitis - Autosomal recessive inheritance - Cerebral cortical atrophy - Clonus - Coma - Decreased liver function - Decreased nerve conduction velocity - Episodic vomiting - Failure to thrive - Generalized myoclonic seizures - Hepatomegaly - Hyperammonemia - Hyperornithinemia - Hypopigmentation of the fundus - Lethargy - Morphological abnormality of the pyramidal tract - Muscular hypotonia - Phenotypic variability - Poor coordination - Protein avoidance - Spastic paraparesis - Specific learning disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ornithine translocase deficiency syndrome ? assistant What are the signs and symptoms of Ornithine translocase deficiency syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine translocase deficiency syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Chorioretinal atrophy 1% Abnormal pyramidal signs - Acute encephalopathy - Acute hepatitis - Autosomal recessive inheritance - Cerebral cortical atrophy - Clonus - Coma - Decreased liver function - Decreased nerve conduction velocity - Episodic vomiting - Failure to thrive - Generalized myoclonic seizures - Hepatomegaly - Hyperammonemia - Hyperornithinemia - Hypopigmentation of the fundus - Lethargy - Morphological abnormality of the pyramidal tract - Muscular hypotonia - Phenotypic variability - Poor coordination - Protein avoidance - Spastic paraparesis - Specific learning disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Oculodentodigital dysplasia ? | Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The condition is caused by mutations in the GJA1 gene. Most cases are inherited in an autosomal dominant pattern. Some cases are caused by a new mutation in the gene. A small number of cases follow an autosomal recessive pattern of inheritance. Management is multidisciplinary and based on specific symptoms. Early diagnosis is critical for prevention and treatment. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Oculodentodigital dysplasia ? assistant Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The condition is caused by mutations in the GJA1 gene. Most cases are inherited in an autosomal dominant pattern. Some cases are caused by a new mutation in the gene. A small number of cases follow an autosomal recessive pattern of inheritance. Management is multidisciplinary and based on specific symptoms. Early diagnosis is critical for prevention and treatment. |
What are the symptoms of Oculodentodigital dysplasia ? | What are the signs and symptoms of Oculodentodigital dysplasia? Individuals with oculodentodigital dysplasia commonly have small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. They also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age. The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentodigital dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Anteverted nares 90% Broad columella 90% Camptodactyly of finger 90% Carious teeth 90% Cleft palate 90% Clinodactyly of the 5th finger 90% Finger syndactyly 90% Microcornea 90% Narrow nasal bridge 90% Premature loss of primary teeth 90% Reduced number of teeth 90% Toe syndactyly 90% Underdeveloped nasal alae 90% Abnormal cortical bone morphology 50% Abnormal hair quantity 50% Abnormality of the fingernails 50% Abnormality of the metaphyses 50% Abnormality of the urinary system 50% Aplasia/Hypoplasia of the cerebellum 50% Broad alveolar ridges 50% Cataract 50% Cerebral calcification 50% Cognitive impairment 50% Conductive hearing impairment 50% Craniofacial hyperostosis 50% External ear malformation 50% Gait disturbance 50% Glaucoma 50% Hemiplegia/hemiparesis 50% High forehead 50% Hypermetropia 50% Hyperreflexia 50% Hypertelorism 50% Hypertonia 50% Hypotelorism 50% Incoordination 50% Mandibular prognathia 50% Median cleft lip 50% Muscle weakness 50% Myopia 50% Neurological speech impairment 50% Optic atrophy 50% Seizures 50% Short nose 50% Slow-growing hair 50% Visual impairment 50% Abnormal diaphysis morphology 7.5% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the iris 7.5% Arrhythmia 7.5% Blepharophimosis 7.5% Brachydactyly syndrome 7.5% Deeply set eye 7.5% Epicanthus 7.5% Fine hair 7.5% Hypoglycemia 7.5% Madelung deformity 7.5% Non-midline cleft lip 7.5% Nystagmus 7.5% Palmoplantar keratoderma 7.5% Preaxial hand polydactyly 7.5% Short hallux 7.5% Strabismus 7.5% Taurodontia 7.5% Umbilical hernia 7.5% Upslanted palpebral fissure 7.5% Ventricular septal defect 7.5% Abnormality of the pinna 5% Atria septal defect 5% Neurogenic bladder 5% 3-4 toe syndactyly - 4-5 finger syndactyly - Ataxia - Autosomal dominant inheritance - Basal ganglia calcification - Cleft upper lip - Clinodactyly - Cubitus valgus - Dry hair - Dysarthria - Fragile nails - Hip dislocation - Hyperactive deep tendon reflexes - Hypoplasia of dental enamel - Intellectual disability - Joint contracture of the 5th finger - Microcephaly - Microdontia - Microphthalmia - Paraparesis - Premature loss of teeth - Selective tooth agenesis - Short middle phalanx of the 5th finger - Short palpebral fissure - Sparse hair - Spasticity - Tetraparesis - Thin anteverted nares - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Oculodentodigital dysplasia ? assistant What are the signs and symptoms of Oculodentodigital dysplasia? Individuals with oculodentodigital dysplasia commonly have small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. They also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age. The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentodigital dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Anteverted nares 90% Broad columella 90% Camptodactyly of finger 90% Carious teeth 90% Cleft palate 90% Clinodactyly of the 5th finger 90% Finger syndactyly 90% Microcornea 90% Narrow nasal bridge 90% Premature loss of primary teeth 90% Reduced number of teeth 90% Toe syndactyly 90% Underdeveloped nasal alae 90% Abnormal cortical bone morphology 50% Abnormal hair quantity 50% Abnormality of the fingernails 50% Abnormality of the metaphyses 50% Abnormality of the urinary system 50% Aplasia/Hypoplasia of the cerebellum 50% Broad alveolar ridges 50% Cataract 50% Cerebral calcification 50% Cognitive impairment 50% Conductive hearing impairment 50% Craniofacial hyperostosis 50% External ear malformation 50% Gait disturbance 50% Glaucoma 50% Hemiplegia/hemiparesis 50% High forehead 50% Hypermetropia 50% Hyperreflexia 50% Hypertelorism 50% Hypertonia 50% Hypotelorism 50% Incoordination 50% Mandibular prognathia 50% Median cleft lip 50% Muscle weakness 50% Myopia 50% Neurological speech impairment 50% Optic atrophy 50% Seizures 50% Short nose 50% Slow-growing hair 50% Visual impairment 50% Abnormal diaphysis morphology 7.5% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the iris 7.5% Arrhythmia 7.5% Blepharophimosis 7.5% Brachydactyly syndrome 7.5% Deeply set eye 7.5% Epicanthus 7.5% Fine hair 7.5% Hypoglycemia 7.5% Madelung deformity 7.5% Non-midline cleft lip 7.5% Nystagmus 7.5% Palmoplantar keratoderma 7.5% Preaxial hand polydactyly 7.5% Short hallux 7.5% Strabismus 7.5% Taurodontia 7.5% Umbilical hernia 7.5% Upslanted palpebral fissure 7.5% Ventricular septal defect 7.5% Abnormality of the pinna 5% Atria septal defect 5% Neurogenic bladder 5% 3-4 toe syndactyly - 4-5 finger syndactyly - Ataxia - Autosomal dominant inheritance - Basal ganglia calcification - Cleft upper lip - Clinodactyly - Cubitus valgus - Dry hair - Dysarthria - Fragile nails - Hip dislocation - Hyperactive deep tendon reflexes - Hypoplasia of dental enamel - Intellectual disability - Joint contracture of the 5th finger - Microcephaly - Microdontia - Microphthalmia - Paraparesis - Premature loss of teeth - Selective tooth agenesis - Short middle phalanx of the 5th finger - Short palpebral fissure - Sparse hair - Spasticity - Tetraparesis - Thin anteverted nares - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Immunodeficiency with hyper IgM type 5 ? | What are the signs and symptoms of Immunodeficiency with hyper IgM type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Epididymitis - IgA deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Increased IgM level - Lymphadenopathy - Recurrent bacterial infections - Recurrent upper and lower respiratory tract infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Immunodeficiency with hyper IgM type 5 ? assistant What are the signs and symptoms of Immunodeficiency with hyper IgM type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Epididymitis - IgA deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Increased IgM level - Lymphadenopathy - Recurrent bacterial infections - Recurrent upper and lower respiratory tract infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Dwarfism Levi type ? | What are the signs and symptoms of Dwarfism Levi type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism Levi type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Autosomal dominant inheritance - Autosomal recessive inheritance - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Dwarfism Levi type ? assistant What are the signs and symptoms of Dwarfism Levi type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism Levi type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Autosomal dominant inheritance - Autosomal recessive inheritance - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Congenital dyserythropoietic anemia type 2 ? | Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Congenital dyserythropoietic anemia type 2 ? assistant Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder. |
What are the symptoms of Congenital dyserythropoietic anemia type 2 ? | What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. During pregnancy and other special circumstances (such as anemic crisis, major surgery and infections), blood transfusions may be necessary. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia of inadequate production - Autosomal recessive inheritance - Cholelithiasis - Endopolyploidy on chromosome studies of bone marrow - Jaundice - Reduced activity of N-acetylglucosaminyltransferase II - Reticulocytosis - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Congenital dyserythropoietic anemia type 2 ? assistant What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. During pregnancy and other special circumstances (such as anemic crisis, major surgery and infections), blood transfusions may be necessary. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia of inadequate production - Autosomal recessive inheritance - Cholelithiasis - Endopolyploidy on chromosome studies of bone marrow - Jaundice - Reduced activity of N-acetylglucosaminyltransferase II - Reticulocytosis - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the treatments for Congenital dyserythropoietic anemia type 2 ? | How might congenital dyserythropoietic anemia (CDA) type 2 be treated? The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's. If a person with CDA type 2 has mild anemia, but evidence of iron loading, treatment may involve phlebotomy. An alternative treatment is chelation therapy. In particular, chelation therapy is preferred for people with iron (ferritin) levels greater than 1000 mg/L. The Iron Disorders Institute provides information on chelation therapy through their Web site at: http://www.irondisorders.org/chelation-therapy Many people with CDA-2 maintain hemoglobin levels just above the threshold for symptoms. Mild anemia may not need treatment, as long as it doesn't worsen. Less commonly CDA-2 causes severe anemia. Treatment of severe anemia may involve blood transfusions. Blood transfusions can raise iron levels so, careful monitoring and treatment for iron overload is required. The National Heart, Lung, and Blood Institute offers tips for living with hemolytic anemia at the following link: http://www.nhlbi.nih.gov/health/health-topics/topics/ha/livingwith Splenectomy is considered for people with CDA-2 and severe anemia. Splenectomy can cause a consistent rise in hemoglobin values. The spleen, however, is important in fighting infection. People, particularly children, who have had a splenectomy are more likely to contract a serious and possibly life-threatening infection (sepsis). This risk must be carefully weighed. Splenectomy does not affect iron overload. Lastly, people with very severe CDA-2 may be candidates for hematopoietic stem cell transplantation (HSCT). Currently this is the only available curative treatment for CDA-2. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Congenital dyserythropoietic anemia type 2 ? assistant How might congenital dyserythropoietic anemia (CDA) type 2 be treated? The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's. If a person with CDA type 2 has mild anemia, but evidence of iron loading, treatment may involve phlebotomy. An alternative treatment is chelation therapy. In particular, chelation therapy is preferred for people with iron (ferritin) levels greater than 1000 mg/L. The Iron Disorders Institute provides information on chelation therapy through their Web site at: http://www.irondisorders.org/chelation-therapy Many people with CDA-2 maintain hemoglobin levels just above the threshold for symptoms. Mild anemia may not need treatment, as long as it doesn't worsen. Less commonly CDA-2 causes severe anemia. Treatment of severe anemia may involve blood transfusions. Blood transfusions can raise iron levels so, careful monitoring and treatment for iron overload is required. The National Heart, Lung, and Blood Institute offers tips for living with hemolytic anemia at the following link: http://www.nhlbi.nih.gov/health/health-topics/topics/ha/livingwith Splenectomy is considered for people with CDA-2 and severe anemia. Splenectomy can cause a consistent rise in hemoglobin values. The spleen, however, is important in fighting infection. People, particularly children, who have had a splenectomy are more likely to contract a serious and possibly life-threatening infection (sepsis). This risk must be carefully weighed. Splenectomy does not affect iron overload. Lastly, people with very severe CDA-2 may be candidates for hematopoietic stem cell transplantation (HSCT). Currently this is the only available curative treatment for CDA-2. |
What are the symptoms of Sarcosinemia ? | What are the signs and symptoms of Sarcosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hypersarcosinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Sarcosinemia ? assistant What are the signs and symptoms of Sarcosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hypersarcosinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Lipedema ? | Lipedema is a syndrome characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin, which is often painful. It is a common condition affecting up to 11% of women The underlying cause is currently unknown; however many people with lipedema have a family history of similarly enlarged legs. Hormones are also thought to play a role. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Lipedema ? assistant Lipedema is a syndrome characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin, which is often painful. It is a common condition affecting up to 11% of women The underlying cause is currently unknown; however many people with lipedema have a family history of similarly enlarged legs. Hormones are also thought to play a role. |
What are the symptoms of Lipedema ? | What are the signs and symptoms of lipedema? Signs and symptoms of lipedema include enlarged legs extending from the buttocks to the ankles. This enlargement can be painful. The size of the legs are typically out of proportion to the upper body (despite the individuals BMI). The feet are much less involved or spared entirely. In lipedema, the skin does not appear warty, hard (sclerotic), or discolored. Lipedema is not thought to predispose a person to ulcer development. People with lipedema may tend to bruise easily, possibly due to increased fragility of small blood vessel within the fat tissue. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Lipedema ? assistant What are the signs and symptoms of lipedema? Signs and symptoms of lipedema include enlarged legs extending from the buttocks to the ankles. This enlargement can be painful. The size of the legs are typically out of proportion to the upper body (despite the individuals BMI). The feet are much less involved or spared entirely. In lipedema, the skin does not appear warty, hard (sclerotic), or discolored. Lipedema is not thought to predispose a person to ulcer development. People with lipedema may tend to bruise easily, possibly due to increased fragility of small blood vessel within the fat tissue. |
What causes Lipedema ? | What causes lipedema? The cause of lipedema is unknown. Hormones appear to play a role, especially considering that the condition occurs almost entirely in females and often develops after puberty or other periods of hormone change (e.g., pregnancy, menopause). Although people who are obese may be overrepresented among those with lipedema, persons of normal weight are also commonly affected. As a result, obesity alone is unlikely to be a major determinant of this syndrome. Many people with lipedema have a family history of similarly enlarged legs. At this time the role of genetics in the causation of lipedema is unknown. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Lipedema ? assistant What causes lipedema? The cause of lipedema is unknown. Hormones appear to play a role, especially considering that the condition occurs almost entirely in females and often develops after puberty or other periods of hormone change (e.g., pregnancy, menopause). Although people who are obese may be overrepresented among those with lipedema, persons of normal weight are also commonly affected. As a result, obesity alone is unlikely to be a major determinant of this syndrome. Many people with lipedema have a family history of similarly enlarged legs. At this time the role of genetics in the causation of lipedema is unknown. |
What are the treatments for Lipedema ? | How might lipedema be treated? Treatment options for lipedema are limited. A number of therapies that have been tried with minimal success include dieting, diuretics, leg elevation, and compression. Invasive treatments such as lipectomy or liposuction are not recommended because they risk causing damage to the lymphatic system. While, compression therapy may not do much to improve the lipedema, it may help prevent worsening and progression to lymphedema (lipolymphedema). | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Lipedema ? assistant How might lipedema be treated? Treatment options for lipedema are limited. A number of therapies that have been tried with minimal success include dieting, diuretics, leg elevation, and compression. Invasive treatments such as lipectomy or liposuction are not recommended because they risk causing damage to the lymphatic system. While, compression therapy may not do much to improve the lipedema, it may help prevent worsening and progression to lymphedema (lipolymphedema). |
What is (are) CHOPS syndrome ? | CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) CHOPS syndrome ? assistant CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. |
What are the symptoms of CHOPS syndrome ? | What are the signs and symptoms of CHOPS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHOPS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 5% Hearing impairment 5% Horseshoe kidney 5% Optic atrophy 5% Abnormality of the cardiac septa - Aspiration pneumonia - Brachydactyly syndrome - Chronic lung disease - Coarse facial features - Cryptorchidism - Downturned corners of mouth - Gastroesophageal reflux - Hypertelorism - Intellectual disability - Laryngomalacia - Long eyelashes - Obesity - Patent ductus arteriosus - Proptosis - Round face - Short nose - Short stature - Thick eyebrow - Thick hair - Tracheal stenosis - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of CHOPS syndrome ? assistant What are the signs and symptoms of CHOPS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHOPS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 5% Hearing impairment 5% Horseshoe kidney 5% Optic atrophy 5% Abnormality of the cardiac septa - Aspiration pneumonia - Brachydactyly syndrome - Chronic lung disease - Coarse facial features - Cryptorchidism - Downturned corners of mouth - Gastroesophageal reflux - Hypertelorism - Intellectual disability - Laryngomalacia - Long eyelashes - Obesity - Patent ductus arteriosus - Proptosis - Round face - Short nose - Short stature - Thick eyebrow - Thick hair - Tracheal stenosis - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) 2-methyl-3-hydroxybutyric aciduria ? | 2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) 2-methyl-3-hydroxybutyric aciduria ? assistant 2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance. |
What are the symptoms of 2-methyl-3-hydroxybutyric aciduria ? | What are the signs and symptoms of 2-methyl-3-hydroxybutyric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methyl-3-hydroxybutyric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Choreoathetosis - Delayed speech and language development - Developmental regression - Hypertrophic cardiomyopathy - Hypoglycemia - Infantile onset - Intellectual disability - Lactic acidosis - Metabolic acidosis - Muscular hypotonia - Nystagmus - Progressive neurologic deterioration - Restlessness - Retinal degeneration - Seizures - Sensorineural hearing impairment - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of 2-methyl-3-hydroxybutyric aciduria ? assistant What are the signs and symptoms of 2-methyl-3-hydroxybutyric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methyl-3-hydroxybutyric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Choreoathetosis - Delayed speech and language development - Developmental regression - Hypertrophic cardiomyopathy - Hypoglycemia - Infantile onset - Intellectual disability - Lactic acidosis - Metabolic acidosis - Muscular hypotonia - Nystagmus - Progressive neurologic deterioration - Restlessness - Retinal degeneration - Seizures - Sensorineural hearing impairment - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Camptodactyly taurinuria ? | What are the signs and symptoms of Camptodactyly taurinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly taurinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Increased urinary taurine - Knee dislocation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Camptodactyly taurinuria ? assistant What are the signs and symptoms of Camptodactyly taurinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly taurinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Increased urinary taurine - Knee dislocation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Klatskin tumor ? | Klatskin tumors are tumors that affect the upper part of the bile duct where it divides to enter the right and left parts of the liver. One or both sides may be affected. Individuals with Klatskin tumors often present with jaundice and/or abnormal liver tests. Treatment may involve surgical removal of the tumor. Not all tumors can be removed. Prognosis for cases that cannot be removed (non-resectable tumors) is poor. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Klatskin tumor ? assistant Klatskin tumors are tumors that affect the upper part of the bile duct where it divides to enter the right and left parts of the liver. One or both sides may be affected. Individuals with Klatskin tumors often present with jaundice and/or abnormal liver tests. Treatment may involve surgical removal of the tumor. Not all tumors can be removed. Prognosis for cases that cannot be removed (non-resectable tumors) is poor. |
What are the symptoms of Klatskin tumor ? | What are the signs and symptoms of Klatskin tumor? The symptoms associated with Klatskin tumors are usually due to blocked bile ducts. Symptoms may include: Jaundice Itching Light colored stools and/or dark urine Abdominal pain Loss of appetite / weight loss Fever Nausea / vomiting The Human Phenotype Ontology provides the following list of signs and symptoms for Klatskin tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Biliary tract neoplasm 90% Hepatomegaly 50% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Lymphadenopathy 7.5% Thrombophlebitis 7.5% Weight loss 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Klatskin tumor ? assistant What are the signs and symptoms of Klatskin tumor? The symptoms associated with Klatskin tumors are usually due to blocked bile ducts. Symptoms may include: Jaundice Itching Light colored stools and/or dark urine Abdominal pain Loss of appetite / weight loss Fever Nausea / vomiting The Human Phenotype Ontology provides the following list of signs and symptoms for Klatskin tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Biliary tract neoplasm 90% Hepatomegaly 50% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Lymphadenopathy 7.5% Thrombophlebitis 7.5% Weight loss 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ? | What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Autosomal recessive inheritance - Broad eyebrow - Broad nasal tip - Clinodactyly of the 5th finger - Dental crowding - Full cheeks - High palate - Hypoplasia of the corpus callosum - Intellectual disability - Large earlobe - Macular degeneration - Pes planus - Pointed chin - Poor eye contact - Sensorineural hearing impairment - Smooth philtrum - Strabismus - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ? assistant What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Autosomal recessive inheritance - Broad eyebrow - Broad nasal tip - Clinodactyly of the 5th finger - Dental crowding - Full cheeks - High palate - Hypoplasia of the corpus callosum - Intellectual disability - Large earlobe - Macular degeneration - Pes planus - Pointed chin - Poor eye contact - Sensorineural hearing impairment - Smooth philtrum - Strabismus - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Neurofaciodigitorenal syndrome ? | What are the signs and symptoms of Neurofaciodigitorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofaciodigitorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antitragus 90% Abnormality of the metacarpal bones 90% Abnormality of the tragus 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Frontal bossing 90% Intrauterine growth retardation 90% Large earlobe 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Midline defect of the nose 90% Muscular hypotonia 90% Prominent nasal bridge 90% Short stature 90% Triphalangeal thumb 90% Abnormality of the distal phalanx of finger 50% Abnormality of the elbow 50% Abnormality of the philtrum 50% Corneal dystrophy 50% Cryptorchidism 50% Epicanthus 50% Hypertelorism 50% Mandibular prognathia 50% Pectus excavatum 50% Plagiocephaly 50% Ptosis 50% Renal hypoplasia/aplasia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Bifid nose - EEG abnormality - Intellectual disability - Prominent forehead - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Neurofaciodigitorenal syndrome ? assistant What are the signs and symptoms of Neurofaciodigitorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofaciodigitorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antitragus 90% Abnormality of the metacarpal bones 90% Abnormality of the tragus 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Frontal bossing 90% Intrauterine growth retardation 90% Large earlobe 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Midline defect of the nose 90% Muscular hypotonia 90% Prominent nasal bridge 90% Short stature 90% Triphalangeal thumb 90% Abnormality of the distal phalanx of finger 50% Abnormality of the elbow 50% Abnormality of the philtrum 50% Corneal dystrophy 50% Cryptorchidism 50% Epicanthus 50% Hypertelorism 50% Mandibular prognathia 50% Pectus excavatum 50% Plagiocephaly 50% Ptosis 50% Renal hypoplasia/aplasia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Bifid nose - EEG abnormality - Intellectual disability - Prominent forehead - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Hurler syndrome ? | What are the signs and symptoms of Hurler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hurler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tonsils 90% Anteverted nares 90% Cerebral palsy 90% Coarse facial features 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Full cheeks 90% Hepatomegaly 90% Hernia 90% Hypertrichosis 90% Hypertrophic cardiomyopathy 90% Large face 90% Mucopolysacchariduria 90% Muscular hypotonia 90% Short neck 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Thick eyebrow 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of finger 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Abnormality of the tongue 50% Dolichocephaly 50% Glaucoma 50% Hearing impairment 50% Hydrocephalus 50% Hypertension 50% Malabsorption 50% Opacification of the corneal stroma 50% Recurrent respiratory infections 50% Retinopathy 50% Scoliosis 50% Short stature 50% Sleep disturbance 50% Thick lower lip vermilion 50% C1-C2 subluxation 38% Abnormal pyramidal signs 7.5% Abnormality of skin pigmentation 7.5% Coronary artery disease 7.5% Decreased nerve conduction velocity 7.5% Hemiplegia/hemiparesis 7.5% Spinal canal stenosis 7.5% Retinal degeneration 5% Mitral regurgitation 10/12 Aortic regurgitation 4/12 Recurrent respiratory infections 4/12 Endocardial fibroelastosis 11/58 Abnormal CNS myelination - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad nasal tip - Calvarial hyperostosis - Cardiomyopathy - Coxa valga - Diaphyseal thickening - Dysostosis multiplex - Flared iliac wings - Flexion contracture - Gingival overgrowth - Hepatosplenomegaly - Hirsutism - Hypoplasia of the femoral head - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - Joint stiffness - J-shaped sella turcica - Kyphosis - Macrocephaly - Microdontia - Neurodegeneration - Progressive neurologic deterioration - Short clavicles - Thick vermilion border - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hurler syndrome ? assistant What are the signs and symptoms of Hurler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hurler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tonsils 90% Anteverted nares 90% Cerebral palsy 90% Coarse facial features 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Full cheeks 90% Hepatomegaly 90% Hernia 90% Hypertrichosis 90% Hypertrophic cardiomyopathy 90% Large face 90% Mucopolysacchariduria 90% Muscular hypotonia 90% Short neck 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Thick eyebrow 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of finger 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Abnormality of the tongue 50% Dolichocephaly 50% Glaucoma 50% Hearing impairment 50% Hydrocephalus 50% Hypertension 50% Malabsorption 50% Opacification of the corneal stroma 50% Recurrent respiratory infections 50% Retinopathy 50% Scoliosis 50% Short stature 50% Sleep disturbance 50% Thick lower lip vermilion 50% C1-C2 subluxation 38% Abnormal pyramidal signs 7.5% Abnormality of skin pigmentation 7.5% Coronary artery disease 7.5% Decreased nerve conduction velocity 7.5% Hemiplegia/hemiparesis 7.5% Spinal canal stenosis 7.5% Retinal degeneration 5% Mitral regurgitation 10/12 Aortic regurgitation 4/12 Recurrent respiratory infections 4/12 Endocardial fibroelastosis 11/58 Abnormal CNS myelination - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad nasal tip - Calvarial hyperostosis - Cardiomyopathy - Coxa valga - Diaphyseal thickening - Dysostosis multiplex - Flared iliac wings - Flexion contracture - Gingival overgrowth - Hepatosplenomegaly - Hirsutism - Hypoplasia of the femoral head - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - Joint stiffness - J-shaped sella turcica - Kyphosis - Macrocephaly - Microdontia - Neurodegeneration - Progressive neurologic deterioration - Short clavicles - Thick vermilion border - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Ectopia pupillae ? | What are the signs and symptoms of Ectopia pupillae? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectopia pupillae. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Ectopia pupillae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ectopia pupillae ? assistant What are the signs and symptoms of Ectopia pupillae? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectopia pupillae. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Ectopia pupillae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Spondylocostal dysostosis 2 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 2 is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Spondylocostal dysostosis 2 ? assistant Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 2 is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis. |
What are the symptoms of Spondylocostal dysostosis 2 ? | What are the signs and symptoms of Spondylocostal dysostosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Restrictive respiratory insufficiency 44% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Autosomal recessive inheritance - Disproportionate short-trunk short stature - Recurrent respiratory infections - Rib fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spondylocostal dysostosis 2 ? assistant What are the signs and symptoms of Spondylocostal dysostosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Restrictive respiratory insufficiency 44% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Autosomal recessive inheritance - Disproportionate short-trunk short stature - Recurrent respiratory infections - Rib fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Amyotrophic lateral sclerosis type 6 ? | What are the signs and symptoms of Amyotrophic lateral sclerosis type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Fasciculations - Gait disturbance - Hyporeflexia - Neuronal loss in central nervous system - Proximal amyotrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Amyotrophic lateral sclerosis type 6 ? assistant What are the signs and symptoms of Amyotrophic lateral sclerosis type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Fasciculations - Gait disturbance - Hyporeflexia - Neuronal loss in central nervous system - Proximal amyotrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Dermal eccrine cylindroma ? | Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. They usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. The development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis. Individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. The tumors grow very slowly and increase in number over time. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Dermal eccrine cylindroma ? assistant Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. They usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. The development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis. Individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. The tumors grow very slowly and increase in number over time. |
What is (are) Brachydactyly type B ? | Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. The feet are usually similarly affected, but less severely. Other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. Only a few cases have been reported in the literature. This condition is caused by mutations in the ROR2 gene. Most cases have been shown to be inherited in an autosomal dominant fashion. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Brachydactyly type B ? assistant Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. The feet are usually similarly affected, but less severely. Other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. Only a few cases have been reported in the literature. This condition is caused by mutations in the ROR2 gene. Most cases have been shown to be inherited in an autosomal dominant fashion. |
What are the symptoms of Brachydactyly type B ? | What are the signs and symptoms of Brachydactyly type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Short distal phalanx of finger 90% Short toe 90% Abnormality of thumb phalanx 7.5% Preaxial foot polydactyly 7.5% Symphalangism affecting the phalanges of the hand 7.5% Synostosis of carpal bones 7.5% Cutaneous finger syndactyly 5% Abnormality of the foot - Aplasia/Hypoplasia of the distal phalanges of the hand - Autosomal dominant inheritance - Broad thumb - Camptodactyly - Delayed cranial suture closure - Delayed eruption of permanent teeth - Hemivertebrae - Hypoplastic sacrum - Joint contracture of the hand - Micropenis - Short long bone - Short middle phalanx of finger - Syndactyly - Thoracolumbar scoliosis - Type B brachydactyly - Ventricular septal defect - Vertebral fusion - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Brachydactyly type B ? assistant What are the signs and symptoms of Brachydactyly type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Short distal phalanx of finger 90% Short toe 90% Abnormality of thumb phalanx 7.5% Preaxial foot polydactyly 7.5% Symphalangism affecting the phalanges of the hand 7.5% Synostosis of carpal bones 7.5% Cutaneous finger syndactyly 5% Abnormality of the foot - Aplasia/Hypoplasia of the distal phalanges of the hand - Autosomal dominant inheritance - Broad thumb - Camptodactyly - Delayed cranial suture closure - Delayed eruption of permanent teeth - Hemivertebrae - Hypoplastic sacrum - Joint contracture of the hand - Micropenis - Short long bone - Short middle phalanx of finger - Syndactyly - Thoracolumbar scoliosis - Type B brachydactyly - Ventricular septal defect - Vertebral fusion - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
Is Brachydactyly type B inherited ? | How is brachydactyly type B inherited? Brachydactyly type B is caused by mutations in the ROR2 gene. It is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with brachydactyly type B have a 50% chance of passing on this condition to their children. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Brachydactyly type B inherited ? assistant How is brachydactyly type B inherited? Brachydactyly type B is caused by mutations in the ROR2 gene. It is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with brachydactyly type B have a 50% chance of passing on this condition to their children. |
What are the symptoms of Isolated ACTH deficiency ? | What are the signs and symptoms of Isolated ACTH deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ACTH deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adrenal hypoplasia - Adrenocorticotropic hormone deficiency - Autosomal recessive inheritance - Decreased circulating cortisol level - Fasting hypoglycemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Isolated ACTH deficiency ? assistant What are the signs and symptoms of Isolated ACTH deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ACTH deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adrenal hypoplasia - Adrenocorticotropic hormone deficiency - Autosomal recessive inheritance - Decreased circulating cortisol level - Fasting hypoglycemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Ichthyosis hystrix gravior ? | What are the signs and symptoms of Ichthyosis hystrix gravior? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix gravior. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Ichthyosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ichthyosis hystrix gravior ? assistant What are the signs and symptoms of Ichthyosis hystrix gravior? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix gravior. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Ichthyosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Hyde Forster Mccarthy Berry syndrome ? | What are the signs and symptoms of Hyde Forster Mccarthy Berry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyde Forster Mccarthy Berry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Plagiocephaly 90% Abnormality of movement 50% Brachycephaly - Coarse facial features - Frontal bossing - Intellectual disability, moderate - Prominent forehead - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hyde Forster Mccarthy Berry syndrome ? assistant What are the signs and symptoms of Hyde Forster Mccarthy Berry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyde Forster Mccarthy Berry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Plagiocephaly 90% Abnormality of movement 50% Brachycephaly - Coarse facial features - Frontal bossing - Intellectual disability, moderate - Prominent forehead - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency ? | What are the signs and symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome associated with acetylcholine receptor deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the immune system - Autosomal recessive inheritance - Decreased fetal movement - Decreased muscle mass - Decreased size of nerve terminals - Dental malocclusion - Dysarthria - Dysphagia - Easy fatigability - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Facial palsy - Feeding difficulties - Gowers sign - High palate - Infantile onset - Long face - Mandibular prognathia - Motor delay - Muscle cramps - Muscular hypotonia - Nonprogressive - Ophthalmoparesis - Ptosis - Respiratory insufficiency due to muscle weakness - Skeletal muscle atrophy - Strabismus - Type 2 muscle fiber atrophy - Variable expressivity - Weak cry - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency ? assistant What are the signs and symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome associated with acetylcholine receptor deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the immune system - Autosomal recessive inheritance - Decreased fetal movement - Decreased muscle mass - Decreased size of nerve terminals - Dental malocclusion - Dysarthria - Dysphagia - Easy fatigability - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Facial palsy - Feeding difficulties - Gowers sign - High palate - Infantile onset - Long face - Mandibular prognathia - Motor delay - Muscle cramps - Muscular hypotonia - Nonprogressive - Ophthalmoparesis - Ptosis - Respiratory insufficiency due to muscle weakness - Skeletal muscle atrophy - Strabismus - Type 2 muscle fiber atrophy - Variable expressivity - Weak cry - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Lymphatic filariasis ? | Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A small percentage of people develop lymphedema, which may affect the legs, arms, breasts, and genitalia; bacterial infections that cause hardening and thickening of the skin, called elephantiasis; hydrocele (swelling of the scrotum) in men; and pulmonary tropical eosinophilia syndrome. Treatment may include a yearly dose of medicine, called diethylcarbamazine (DEC); while this drug does not kill all of the adult worms, it prevents infected people from giving the disease to someone else. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Lymphatic filariasis ? assistant Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A small percentage of people develop lymphedema, which may affect the legs, arms, breasts, and genitalia; bacterial infections that cause hardening and thickening of the skin, called elephantiasis; hydrocele (swelling of the scrotum) in men; and pulmonary tropical eosinophilia syndrome. Treatment may include a yearly dose of medicine, called diethylcarbamazine (DEC); while this drug does not kill all of the adult worms, it prevents infected people from giving the disease to someone else. |
What are the treatments for Lymphatic filariasis ? | How might lymphatic filariasis be treated? The main treatment for this disorder is the use of major anti-parasiticide drugs; examples of these include ivermectin, albendazole, and diethylcarbamazine (DEC). These drugs work to get rid of the larval worm, to inhibit reproduction of the adult worm, or to kill the adult worm. For individuals who are actively infected with the filarial parasite, DEC is typically the drug of choice in the United States. The drug kills the microfilaria and some of the adult worms. DEC has been used world-wide for more than 50 years. Because this infection is rare in the U.S., the drug is no longer approved by the Food and Drug Administration (FDA) and cannot be sold in the United.States. Physicians can typically obtain the medication from the CDC after confirmed positive lab results. DEC is generally well tolerated. Side effects are in general limited and depend on the number of microfilariae in the blood. The most common side effects are dizziness, nausea, fever, headache, or pain in muscles or joints. Another treatment option, ivermectin, kills only the microfilariae. For individuals with clinical symptoms of the condition, treatment depends on the signs and symptoms the affected individual has. Lymphedema and elephantiasis are not typically indications for DEC treatment because most people with lymphedema are not actively infected with the filarial parasite. To prevent the lymphedema from getting worse, individuals should ask their physician for a referral to a lymphedema therapist so they can be informed about some basic principles of care such as hygiene, exercise and treatment of wounds. Men with hydrocele (abnormal accumulation of fluid in the scrotum) may have evidence of active infection, but typically do not improve clinically following treatment with DEC. The treatment for hydrocele is surgery. Surgery may also be performed to remove the remains of adult worms and calcifications developing around them. Treatment of elephantiasis of the legs usually consists of elevation and support from elastic stockings. In the tropical areas of the world, mosquito control is an important part of prevention of filariasis. Filariasis is usually a self-limited disease unless reinfection occurs. Therefore some cases, especially those brought into temperate regions of the world (i.e., North America), may be left untreated because there is no danger of spreading the disease. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Lymphatic filariasis ? assistant How might lymphatic filariasis be treated? The main treatment for this disorder is the use of major anti-parasiticide drugs; examples of these include ivermectin, albendazole, and diethylcarbamazine (DEC). These drugs work to get rid of the larval worm, to inhibit reproduction of the adult worm, or to kill the adult worm. For individuals who are actively infected with the filarial parasite, DEC is typically the drug of choice in the United States. The drug kills the microfilaria and some of the adult worms. DEC has been used world-wide for more than 50 years. Because this infection is rare in the U.S., the drug is no longer approved by the Food and Drug Administration (FDA) and cannot be sold in the United.States. Physicians can typically obtain the medication from the CDC after confirmed positive lab results. DEC is generally well tolerated. Side effects are in general limited and depend on the number of microfilariae in the blood. The most common side effects are dizziness, nausea, fever, headache, or pain in muscles or joints. Another treatment option, ivermectin, kills only the microfilariae. For individuals with clinical symptoms of the condition, treatment depends on the signs and symptoms the affected individual has. Lymphedema and elephantiasis are not typically indications for DEC treatment because most people with lymphedema are not actively infected with the filarial parasite. To prevent the lymphedema from getting worse, individuals should ask their physician for a referral to a lymphedema therapist so they can be informed about some basic principles of care such as hygiene, exercise and treatment of wounds. Men with hydrocele (abnormal accumulation of fluid in the scrotum) may have evidence of active infection, but typically do not improve clinically following treatment with DEC. The treatment for hydrocele is surgery. Surgery may also be performed to remove the remains of adult worms and calcifications developing around them. Treatment of elephantiasis of the legs usually consists of elevation and support from elastic stockings. In the tropical areas of the world, mosquito control is an important part of prevention of filariasis. Filariasis is usually a self-limited disease unless reinfection occurs. Therefore some cases, especially those brought into temperate regions of the world (i.e., North America), may be left untreated because there is no danger of spreading the disease. |
What are the symptoms of Atrial myxoma, familial ? | What are the signs and symptoms of Atrial myxoma, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial myxoma, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bacterial endocarditis - Pulmonic valve myxoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Atrial myxoma, familial ? assistant What are the signs and symptoms of Atrial myxoma, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial myxoma, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bacterial endocarditis - Pulmonic valve myxoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Ring chromosome 20 ? | Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and characteristic facial features. Ring chromosome 20 is caused by an abnormal chromosome known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. Ring chromosome 20 is usually not inherited. It almost always occurs by chance during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Treatment for ring chromosome 20 is focused on management of seizures and accommodations for learning. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Ring chromosome 20 ? assistant Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and characteristic facial features. Ring chromosome 20 is caused by an abnormal chromosome known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. Ring chromosome 20 is usually not inherited. It almost always occurs by chance during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Treatment for ring chromosome 20 is focused on management of seizures and accommodations for learning. |
What are the treatments for Ring chromosome 20 ? | How might ring chromosome 20 be treated? Treatment of ring chromosome 20 is typically focused on management of seizures. The seizures associated with ring chromosome 20 do not generally respond well to medications. The treatment that is successful varies from person to person. Broad spectrum AEDs are usually tried first since they are active against different seizure types. This includes valproate, levetiracetam, lamotrigine, topiramate and zonisamide. Success has been reported in some people with a combination of valproate and lamotrigine, but so far no single therapy has worked for everyone. Vagus nerve stimulation (VNS) has been tried and a reduction in seizures has been reported in some cases but not in others. This involves implanting a medical device under the skin, similar to a pacemaker that delivers a mild electrical current to the brain via the vagus nerve. The long-term effectiveness of VNS therapy is not yet known. The ketogenic diet, which is high in fat and low in carbohydrate, has been shown to be helpful in other types of epilepsy. However there are no published reports about whether this is successful or not in ring chromosome 20 epilepsy. For more information on treatment of seizures in people with R20 and general information on ring chromosome 20, visit the following link from Unique, The Rare Chromosome Disorder Support Group, a non-profit organization that supports chromosomal disorders. http://www.rarechromo.org/information/Chromosome%2020/Ring%2020%20FTNW.pdf | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Ring chromosome 20 ? assistant How might ring chromosome 20 be treated? Treatment of ring chromosome 20 is typically focused on management of seizures. The seizures associated with ring chromosome 20 do not generally respond well to medications. The treatment that is successful varies from person to person. Broad spectrum AEDs are usually tried first since they are active against different seizure types. This includes valproate, levetiracetam, lamotrigine, topiramate and zonisamide. Success has been reported in some people with a combination of valproate and lamotrigine, but so far no single therapy has worked for everyone. Vagus nerve stimulation (VNS) has been tried and a reduction in seizures has been reported in some cases but not in others. This involves implanting a medical device under the skin, similar to a pacemaker that delivers a mild electrical current to the brain via the vagus nerve. The long-term effectiveness of VNS therapy is not yet known. The ketogenic diet, which is high in fat and low in carbohydrate, has been shown to be helpful in other types of epilepsy. However there are no published reports about whether this is successful or not in ring chromosome 20 epilepsy. For more information on treatment of seizures in people with R20 and general information on ring chromosome 20, visit the following link from Unique, The Rare Chromosome Disorder Support Group, a non-profit organization that supports chromosomal disorders. http://www.rarechromo.org/information/Chromosome%2020/Ring%2020%20FTNW.pdf |
What is (are) Horizontal gaze palsy with progressive scoliosis ? | Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or childhood and worsens over time. Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life. HGPPS is caused by changes (mutations) in the ROBO3 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Horizontal gaze palsy with progressive scoliosis ? assistant Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or childhood and worsens over time. Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life. HGPPS is caused by changes (mutations) in the ROBO3 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. |
What are the symptoms of Horizontal gaze palsy with progressive scoliosis ? | What are the signs and symptoms of Horizontal gaze palsy with progressive scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Horizontal gaze palsy with progressive scoliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Kyphosis 90% Cognitive impairment 50% Nystagmus 50% Short neck 50% Seizures 7.5% Sensorineural hearing impairment 7.5% Autosomal recessive inheritance - Congenital onset - Horizontal supranuclear gaze palsy - Progressive ophthalmoplegia - Thoracolumbar scoliosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Horizontal gaze palsy with progressive scoliosis ? assistant What are the signs and symptoms of Horizontal gaze palsy with progressive scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Horizontal gaze palsy with progressive scoliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Kyphosis 90% Cognitive impairment 50% Nystagmus 50% Short neck 50% Seizures 7.5% Sensorineural hearing impairment 7.5% Autosomal recessive inheritance - Congenital onset - Horizontal supranuclear gaze palsy - Progressive ophthalmoplegia - Thoracolumbar scoliosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ? | What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nonspherocytic hemolytic anemia 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ? assistant What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nonspherocytic hemolytic anemia 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of GTP cyclohydrolase I deficiency ? | What are the signs and symptoms of GTP cyclohydrolase I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for GTP cyclohydrolase I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement - Autosomal recessive inheritance - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperkinesis - Hyperphenylalaninemia - Infantile onset - Intellectual disability, progressive - Irritability - Lethargy - Limb hypertonia - Progressive neurologic deterioration - Rigidity - Seizures - Severe muscular hypotonia - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of GTP cyclohydrolase I deficiency ? assistant What are the signs and symptoms of GTP cyclohydrolase I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for GTP cyclohydrolase I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement - Autosomal recessive inheritance - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperkinesis - Hyperphenylalaninemia - Infantile onset - Intellectual disability, progressive - Irritability - Lethargy - Limb hypertonia - Progressive neurologic deterioration - Rigidity - Seizures - Severe muscular hypotonia - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Bartter syndrome ? | Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain wait as expected. Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. It is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Bartter syndrome ? assistant Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain wait as expected. Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. It is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body. |
What are the symptoms of Bartter syndrome ? | What are the signs and symptoms of Bartter syndrome? The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends to be less severe. The antenatal forms of Bartter syndrome (types I, II and IV) may first be characterized by abnormally high levels of amniotic fluid surrounding the affected fetus (polyhydramnios); premature delivery; and possibly life-threatening salt (sodium-chloride) loss. Affected newborns may have fever, vomiting, diarrhea, failure to thrive, delayed growth, intellectual disability, and/or distinctive facial features (triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth). Individuals with type IV may also have sensorineural deafness (hearing loss caused by abnormalities in the inner ear). Classical Bartter syndrome typically becomes apparent in infancy and is characterized by failure to thrive and constipation in the first year of life. Symptoms may include salt craving, fatigue, muscle weakness, growth delay and developmental delay. Loss of excess sodium chloride through the urine can lead to dehydration, constipation, and increased urine production (polyuria). Loss of excess calcium through the urine (hypercalciuria) can cause weakening of the bones (osteopenia). When this excess calcium becomes deposited in the kidneys, tissue in the kidneys can become hardened (nephrocalcinosis). Low levels of potassium in the blood (hypokalemia) cause the muscle weakness, cramping, and fatigue in affected individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of metabolism/homeostasis 90% Short stature 90% Hypocalciuria 7.5% Hypomagnesemia 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Chondrocalcinosis - Congenital onset - Constipation - Decreased glomerular filtration rate - Dehydration - Diarrhea - Edema - Failure to thrive - Fetal polyuria - Fever - Frontal bossing - Generalized muscle weakness - Global glomerulosclerosis - Heterogeneous - Hydrops fetalis - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hypernatriuria - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic hypochloremic metabolic alkalosis - Hypokalemic metabolic alkalosis - Hyponatremia - Hyporeflexia - Hyposthenuria - Hypotension - Impaired platelet aggregation - Impaired reabsorption of chloride - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Large eyes - Low-to-normal blood pressure - Macrocephaly - Macrotia - Motor delay - Muscle cramps - Muscular hypotonia - Nephrocalcinosis - Osteopenia - Paresthesia - Polydipsia - Polyhydramnios - Polyuria - Premature birth - Prominent forehead - Reduced renal corticomedullary differentiation - Renal insufficiency - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Sensorineural hearing impairment - Small for gestational age - Tetany - Triangular face - Tubulointerstitial fibrosis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Bartter syndrome ? assistant What are the signs and symptoms of Bartter syndrome? The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends to be less severe. The antenatal forms of Bartter syndrome (types I, II and IV) may first be characterized by abnormally high levels of amniotic fluid surrounding the affected fetus (polyhydramnios); premature delivery; and possibly life-threatening salt (sodium-chloride) loss. Affected newborns may have fever, vomiting, diarrhea, failure to thrive, delayed growth, intellectual disability, and/or distinctive facial features (triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth). Individuals with type IV may also have sensorineural deafness (hearing loss caused by abnormalities in the inner ear). Classical Bartter syndrome typically becomes apparent in infancy and is characterized by failure to thrive and constipation in the first year of life. Symptoms may include salt craving, fatigue, muscle weakness, growth delay and developmental delay. Loss of excess sodium chloride through the urine can lead to dehydration, constipation, and increased urine production (polyuria). Loss of excess calcium through the urine (hypercalciuria) can cause weakening of the bones (osteopenia). When this excess calcium becomes deposited in the kidneys, tissue in the kidneys can become hardened (nephrocalcinosis). Low levels of potassium in the blood (hypokalemia) cause the muscle weakness, cramping, and fatigue in affected individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of metabolism/homeostasis 90% Short stature 90% Hypocalciuria 7.5% Hypomagnesemia 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Chondrocalcinosis - Congenital onset - Constipation - Decreased glomerular filtration rate - Dehydration - Diarrhea - Edema - Failure to thrive - Fetal polyuria - Fever - Frontal bossing - Generalized muscle weakness - Global glomerulosclerosis - Heterogeneous - Hydrops fetalis - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hypernatriuria - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic hypochloremic metabolic alkalosis - Hypokalemic metabolic alkalosis - Hyponatremia - Hyporeflexia - Hyposthenuria - Hypotension - Impaired platelet aggregation - Impaired reabsorption of chloride - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Large eyes - Low-to-normal blood pressure - Macrocephaly - Macrotia - Motor delay - Muscle cramps - Muscular hypotonia - Nephrocalcinosis - Osteopenia - Paresthesia - Polydipsia - Polyhydramnios - Polyuria - Premature birth - Prominent forehead - Reduced renal corticomedullary differentiation - Renal insufficiency - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Sensorineural hearing impairment - Small for gestational age - Tetany - Triangular face - Tubulointerstitial fibrosis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes Bartter syndrome ? | What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). Type I results from mutations in the SLC12A1 gene; type II from mutations in the KCNJ1 gene; type III from mutations in the CLCNKB gene; and type IV from mutations in the BSND gene, or from a combination of mutations in the CLCNKA and CLCNKB genes. In some people with Bartter syndrome, the genetic cause of the disorder remains unknown; there may be other genes that cause the condition that have not yet been identified. All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Bartter syndrome ? assistant What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). Type I results from mutations in the SLC12A1 gene; type II from mutations in the KCNJ1 gene; type III from mutations in the CLCNKB gene; and type IV from mutations in the BSND gene, or from a combination of mutations in the CLCNKA and CLCNKB genes. In some people with Bartter syndrome, the genetic cause of the disorder remains unknown; there may be other genes that cause the condition that have not yet been identified. All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome. |
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