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How to diagnose Pseudohypoaldosteronism type 2 ?
How is pseudohypoaldosteronism type 2 diagnosed? Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. Mildly elevated levels of chloride ion in the blood, metabolic acidosis, and suppressed plasma renin activity are variably associated with this condition as well. Aldosterone levels may vary from high to low.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Pseudohypoaldosteronism type 2 ? assistant How is pseudohypoaldosteronism type 2 diagnosed? Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. Mildly elevated levels of chloride ion in the blood, metabolic acidosis, and suppressed plasma renin activity are variably associated with this condition as well. Aldosterone levels may vary from high to low.
What are the treatments for Pseudohypoaldosteronism type 2 ?
How might pseudohypoaldosteronism type 2 be treated? Pseudohypoaldosteronism may be treated with thiazide diuretics and dietary restriction of sodium.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Pseudohypoaldosteronism type 2 ? assistant How might pseudohypoaldosteronism type 2 be treated? Pseudohypoaldosteronism may be treated with thiazide diuretics and dietary restriction of sodium.
What are the symptoms of Weyers acrofacial dysostosis ?
What are the signs and symptoms of Weyers acrofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers acrofacial dysostosis. 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 morphology 90% Abnormality of the fingernails 90% Advanced eruption of teeth 90% Hypoplastic toenails 90% Postaxial hand polydactyly 90% Reduced number of teeth 90% Short stature 90% Abnormality of the antihelix 50% Clinodactyly of the 5th finger 50% Facial cleft 50% Short palm 50% Autosomal dominant inheritance - Brachydactyly syndrome - Conical tooth - Hypotelorism - Mild short stature - Nail dysplasia - Postaxial foot polydactyly - Prominent antihelix - Small nail - 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 Weyers acrofacial dysostosis ? assistant What are the signs and symptoms of Weyers acrofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers acrofacial dysostosis. 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 morphology 90% Abnormality of the fingernails 90% Advanced eruption of teeth 90% Hypoplastic toenails 90% Postaxial hand polydactyly 90% Reduced number of teeth 90% Short stature 90% Abnormality of the antihelix 50% Clinodactyly of the 5th finger 50% Facial cleft 50% Short palm 50% Autosomal dominant inheritance - Brachydactyly syndrome - Conical tooth - Hypotelorism - Mild short stature - Nail dysplasia - Postaxial foot polydactyly - Prominent antihelix - Small nail - 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 Autosomal dominant optic atrophy plus syndrome ?
What are the signs and symptoms of Autosomal dominant optic atrophy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy plus 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) Impaired pain sensation 90% Optic atrophy 90% Sensorineural hearing impairment 90% Abnormality of color vision 50% Visual impairment 50% Abnormality of visual evoked potentials 7.5% Decreased nerve conduction velocity 7.5% Strabismus 7.5% Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Tritanomaly - 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 Autosomal dominant optic atrophy plus syndrome ? assistant What are the signs and symptoms of Autosomal dominant optic atrophy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy plus 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) Impaired pain sensation 90% Optic atrophy 90% Sensorineural hearing impairment 90% Abnormality of color vision 50% Visual impairment 50% Abnormality of visual evoked potentials 7.5% Decreased nerve conduction velocity 7.5% Strabismus 7.5% Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Tritanomaly - 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) Mondor disease ?
Mondor disease is a rare condition that is characterized by scarring and inflammation of the veins located just beneath the skin of the chest. The affected veins are initially red and tender and subsequently become a painless, tough, fibrous band that is accompanied by tension and retraction of the nearby skin. In most cases, the condition is benign and resolves on its own; however, Mondor disease can rarely be associated with breast cancer. Although the condition most commonly affects the chest, Mondor disease of other body parts (including the penis, groin, and abdomen) has been described, as well. Mondor disease is thought to occur when pressure or trauma on the veins causes blood to stagnate. In most cases, the condition arises after recent breast surgery, but it can also be associated with physical strain and/or tight-fitting clothing (i.e. bras). Treatments are available to help relieve symptoms until the condition resolves.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Mondor disease ? assistant Mondor disease is a rare condition that is characterized by scarring and inflammation of the veins located just beneath the skin of the chest. The affected veins are initially red and tender and subsequently become a painless, tough, fibrous band that is accompanied by tension and retraction of the nearby skin. In most cases, the condition is benign and resolves on its own; however, Mondor disease can rarely be associated with breast cancer. Although the condition most commonly affects the chest, Mondor disease of other body parts (including the penis, groin, and abdomen) has been described, as well. Mondor disease is thought to occur when pressure or trauma on the veins causes blood to stagnate. In most cases, the condition arises after recent breast surgery, but it can also be associated with physical strain and/or tight-fitting clothing (i.e. bras). Treatments are available to help relieve symptoms until the condition resolves.
What are the symptoms of Leucine-sensitive hypoglycemia of infancy ?
What are the signs and symptoms of Leucine-sensitive hypoglycemia of infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Leucine-sensitive hypoglycemia of infancy. 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 - Autosomal dominant inheritance - Autosomal recessive inheritance - Coma - Drowsiness - Hyperinsulinemic hypoglycemia - Hyperreflexia - Hypoglycemia - Intellectual disability - Irritability - Spasticity - 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 Leucine-sensitive hypoglycemia of infancy ? assistant What are the signs and symptoms of Leucine-sensitive hypoglycemia of infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Leucine-sensitive hypoglycemia of infancy. 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 - Autosomal dominant inheritance - Autosomal recessive inheritance - Coma - Drowsiness - Hyperinsulinemic hypoglycemia - Hyperreflexia - Hypoglycemia - Intellectual disability - Irritability - Spasticity - 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 Odonto onycho dysplasia with alopecia ?
What are the signs and symptoms of Odonto onycho dysplasia with alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odonto onycho dysplasia with alopecia. 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 fingernails 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hypoplastic toenails 90% Microdontia 90% Palmoplantar keratoderma 90% Reduced number of teeth 90% 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Odonto onycho dysplasia with alopecia ? assistant What are the signs and symptoms of Odonto onycho dysplasia with alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odonto onycho dysplasia with alopecia. 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 fingernails 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hypoplastic toenails 90% Microdontia 90% Palmoplantar keratoderma 90% Reduced number of teeth 90% 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) Kyrle disease ?
Kyrle disease is a skin disease characterized by the formation of large papules and is often associated with underlying hepatic, renal or diabetic disorders. It can affect both men and women throughout life, although the average age of onset is 30 years. Lesions typically begin as small papules with silvery scales that eventually grow and form red-brown nodules with a central keratin (horny) plug. The lesions occur mostly on the legs but also develop on the arms and the head and neck region. They are not typically painful may cause intense itching (pruritus). The cause of the disease is unknown; some cases appear to be idiopathic (no known cause) or inherited. The aim of treatment is to treat the underlying disease if one is associated. Lesions may self-heal without any treatment, but new lesions usually develop. Treatments that have been used to treat and reduce lesions include isotretinoin, high dose vitamin A, and tretinoin cream; emollients (skin softening agents) and oral antihistamines may be useful in relieving pruritus.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Kyrle disease ? assistant Kyrle disease is a skin disease characterized by the formation of large papules and is often associated with underlying hepatic, renal or diabetic disorders. It can affect both men and women throughout life, although the average age of onset is 30 years. Lesions typically begin as small papules with silvery scales that eventually grow and form red-brown nodules with a central keratin (horny) plug. The lesions occur mostly on the legs but also develop on the arms and the head and neck region. They are not typically painful may cause intense itching (pruritus). The cause of the disease is unknown; some cases appear to be idiopathic (no known cause) or inherited. The aim of treatment is to treat the underlying disease if one is associated. Lesions may self-heal without any treatment, but new lesions usually develop. Treatments that have been used to treat and reduce lesions include isotretinoin, high dose vitamin A, and tretinoin cream; emollients (skin softening agents) and oral antihistamines may be useful in relieving pruritus.
What are the symptoms of Kyrle disease ?
What are the signs and symptoms of Kyrle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Kyrle disease. 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 skin - Autosomal dominant inheritance - Posterior subcapsular cataract - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Kyrle disease ? assistant What are the signs and symptoms of Kyrle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Kyrle disease. 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 skin - Autosomal dominant inheritance - Posterior subcapsular cataract - 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 Kyrle disease ?
What causes Kyrle disease? The cause of Kyrle disease is currently unknown. Some cases appear to be idiopathic (no known triggers), or inherited. What has been found is that Kyrle disease appears to occur more frequently in patients with certain systemic disorders, which include diabetes mellitus; renal disease (chronic renal failure, albuminuria, elevated serum creatinine, abnormal creatinine clearance, polyuria); hepatic abnormalities (alcoholic cirrhosis); and congestive heart failure. It has been thought that metabolic disorders associated with Kyrle disease are somehow responsible for development of abnormal keratinization and connective tissue changes, but the exact mechanism by which this happens is unclear.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Kyrle disease ? assistant What causes Kyrle disease? The cause of Kyrle disease is currently unknown. Some cases appear to be idiopathic (no known triggers), or inherited. What has been found is that Kyrle disease appears to occur more frequently in patients with certain systemic disorders, which include diabetes mellitus; renal disease (chronic renal failure, albuminuria, elevated serum creatinine, abnormal creatinine clearance, polyuria); hepatic abnormalities (alcoholic cirrhosis); and congestive heart failure. It has been thought that metabolic disorders associated with Kyrle disease are somehow responsible for development of abnormal keratinization and connective tissue changes, but the exact mechanism by which this happens is unclear.
What are the treatments for Kyrle disease ?
How might Kyrle disease be treated? Kyrle disease is most often associated with a systemic disorder, although idiopathic cases without any associated disease have occurred. Therefore, treatment is typically directed toward the underlying condition when appropriate. For individuals in whom itching is a major problem, soothing antipruritic lotions containing menthol and camphor may be helpful. Sedating antihistamines such as hydroxyzine may also be helpful for pruritus, especially at night. Some improvement has been reported with high doses of vitamin A, with or without vitamin E. Topical retinoic acid cream may also improve the symptoms. Another approach to treatment uses oral retinoids, which resulted in alleviation of symptoms in one study. Etretinate in high doses is also reportedly effective, but relapse has been reported following discontinuation of therapy. UV light therapy is reportedly particularly helpful for individuals with widespread lesions or coexisting pruritus from renal or hepatic disease. Carbon dioxide laser or cryosurgery may be helpful for limited lesions, but caution may be recommended for individuals with dark skin, especially with cryosurgery, and for lesions on the lower legs, particularly in patients with diabetes mellitus or poor circulation.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Kyrle disease ? assistant How might Kyrle disease be treated? Kyrle disease is most often associated with a systemic disorder, although idiopathic cases without any associated disease have occurred. Therefore, treatment is typically directed toward the underlying condition when appropriate. For individuals in whom itching is a major problem, soothing antipruritic lotions containing menthol and camphor may be helpful. Sedating antihistamines such as hydroxyzine may also be helpful for pruritus, especially at night. Some improvement has been reported with high doses of vitamin A, with or without vitamin E. Topical retinoic acid cream may also improve the symptoms. Another approach to treatment uses oral retinoids, which resulted in alleviation of symptoms in one study. Etretinate in high doses is also reportedly effective, but relapse has been reported following discontinuation of therapy. UV light therapy is reportedly particularly helpful for individuals with widespread lesions or coexisting pruritus from renal or hepatic disease. Carbon dioxide laser or cryosurgery may be helpful for limited lesions, but caution may be recommended for individuals with dark skin, especially with cryosurgery, and for lesions on the lower legs, particularly in patients with diabetes mellitus or poor circulation.
What is (are) Carney complex ?
Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Carney complex ? assistant Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent.
What are the symptoms of Carney complex ?
What are the signs and symptoms of Carney complex? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney complex. 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 pigmentation of the oral mucosa 90% Growth hormone excess 90% Gynecomastia 90% Hypercortisolism 90% Melanocytic nevus 90% Neoplasm of the adrenal gland 90% Neoplasm of the heart 90% Neoplasm of the skin 90% Neoplasm of the thyroid gland 90% Testicular neoplasm 90% Abnormality of adipose tissue 50% Abnormality of temperature regulation 50% Arthralgia 50% Behavioral abnormality 50% Broad foot 50% Cerebral ischemia 50% Coarse facial features 50% Congestive heart failure 50% Hypertension 50% Hypertrichosis 50% Joint swelling 50% Kyphosis 50% Large hands 50% Neoplasm of the breast 50% Osteoarthritis 50% Reduced bone mineral density 50% Round face 50% Skeletal muscle atrophy 50% Thin skin 50% Truncal obesity 50% Type II diabetes mellitus 50% Anemia 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Mitral stenosis 7.5% Neoplasm of the nervous system 7.5% Ovarian neoplasm 7.5% Precocious puberty 7.5% Striae distensae 7.5% Sudden cardiac death 7.5% Tall stature 7.5% Weight loss 7.5% Abnormality of the eye - Autosomal dominant inheritance - Freckling - Hirsutism - Myxoid subcutaneous tumors - Nevus - Pheochromocytoma - Pituitary adenoma - Profuse pigmented skin lesions - Red hair - Schwannoma - Thyroid carcinoma - Thyroid follicular hyperplasia - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Carney complex ? assistant What are the signs and symptoms of Carney complex? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney complex. 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 pigmentation of the oral mucosa 90% Growth hormone excess 90% Gynecomastia 90% Hypercortisolism 90% Melanocytic nevus 90% Neoplasm of the adrenal gland 90% Neoplasm of the heart 90% Neoplasm of the skin 90% Neoplasm of the thyroid gland 90% Testicular neoplasm 90% Abnormality of adipose tissue 50% Abnormality of temperature regulation 50% Arthralgia 50% Behavioral abnormality 50% Broad foot 50% Cerebral ischemia 50% Coarse facial features 50% Congestive heart failure 50% Hypertension 50% Hypertrichosis 50% Joint swelling 50% Kyphosis 50% Large hands 50% Neoplasm of the breast 50% Osteoarthritis 50% Reduced bone mineral density 50% Round face 50% Skeletal muscle atrophy 50% Thin skin 50% Truncal obesity 50% Type II diabetes mellitus 50% Anemia 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Mitral stenosis 7.5% Neoplasm of the nervous system 7.5% Ovarian neoplasm 7.5% Precocious puberty 7.5% Striae distensae 7.5% Sudden cardiac death 7.5% Tall stature 7.5% Weight loss 7.5% Abnormality of the eye - Autosomal dominant inheritance - Freckling - Hirsutism - Myxoid subcutaneous tumors - Nevus - Pheochromocytoma - Pituitary adenoma - Profuse pigmented skin lesions - Red hair - Schwannoma - Thyroid carcinoma - Thyroid follicular hyperplasia - 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) Pantothenate kinase-associated neurodegeneration ?
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. The atypical form of PKAN usually occurs after the age of ten and progresses more slowly. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. PKAN is inherited in an autosomal recessive manner and is caused by changes (mutations) in the PANK2 gene.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Pantothenate kinase-associated neurodegeneration ? assistant Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. The atypical form of PKAN usually occurs after the age of ten and progresses more slowly. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. PKAN is inherited in an autosomal recessive manner and is caused by changes (mutations) in the PANK2 gene.
What are the symptoms of Pantothenate kinase-associated neurodegeneration ?
What are the signs and symptoms of Pantothenate kinase-associated neurodegeneration? There are two forms of PKAN, classical and atypical. Symptoms of classic PKAN develop during early childhood, usually before age 10. The first symptom is often difficutly with movement and walking. Children are often first considered clumsy as their legs can be rigid, dystonic (an abnormality of muscle tone) and have involuntary muscle spasms (spasticity); these symptoms worsen over time. People can plateau for long periods of time and then undergo intervals of rapid deterioration, often lasting one to two months. Children usually lose the ability to walk by 10-15 years after the beginning of symptoms. Many individuals also experience limited speech and may have enough trouble with chewing and swallowing that a feeding tube becomes necessary. Two-thirds of children with classical PKAN develop peripheral (side) vision loss and night blindness due to retinal degeneration. Cognitive functioning varies from person to person and can range from high average to below average. Premature death does occur; however, live span is variable. With improvements in medical care, a greater number of affected individuals are living into adulthood. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. Features of the atypical form usually progress more slowly and appear within the first three decades of life. Signs and symptoms vary, but the progression in the atypical form is usually slower. Symptoms are usually marked by speech difficulty such repetition of words or phrases (palilalia), rapid speech (tachylalia), and poor articulation/slurring (dysarthria). Psychiatric symptoms such as behavioral problems, personality changes, and depression are more commonly observed. While movement problems are a common feature, it usually develops later. Loss of independent walking often occurs 15-40 years after the initial development of symptoms. Retinal degeneration is rare in the atypical form. The Human Phenotype Ontology provides the following list of signs and symptoms for Pantothenate kinase-associated neurodegeneration. 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 retinal pigmentation 90% Gait disturbance 90% Neurological speech impairment 90% Abnormality of the cranial nerves 50% Abnormality of the foot 50% Chorea 50% Constipation 50% Feeding difficulties in infancy 50% Hyperreflexia 50% Hypertonia 50% Recurrent respiratory infections 50% Tremor 50% Weight loss 50% Abnormal joint morphology 7.5% Developmental regression 7.5% Seizures 7.5% Visual impairment 7.5% Abnormal pyramidal signs - Acanthocytosis - Akinesia - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blepharospasm - Bradykinesia - Cerebral degeneration - Choreoathetosis - Decreased muscle mass - Dementia - Depression - Dysarthria - Dysphagia - Dysphonia - Eye of the tiger anomaly of globus pallidus - Eyelid apraxia - Facial grimacing - Global brain atrophy - Hyperactivity - Hyperpigmentation of the skin - Motor tics - Myopathy - Neurodegeneration - Obsessive-compulsive trait - Optic atrophy - Orofacial dyskinesia - Parkinsonism - Pigmentary retinopathy - Rapidly progressive - Retinal degeneration - Rigidity - Spasticity - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Pantothenate kinase-associated neurodegeneration ? assistant What are the signs and symptoms of Pantothenate kinase-associated neurodegeneration? There are two forms of PKAN, classical and atypical. Symptoms of classic PKAN develop during early childhood, usually before age 10. The first symptom is often difficutly with movement and walking. Children are often first considered clumsy as their legs can be rigid, dystonic (an abnormality of muscle tone) and have involuntary muscle spasms (spasticity); these symptoms worsen over time. People can plateau for long periods of time and then undergo intervals of rapid deterioration, often lasting one to two months. Children usually lose the ability to walk by 10-15 years after the beginning of symptoms. Many individuals also experience limited speech and may have enough trouble with chewing and swallowing that a feeding tube becomes necessary. Two-thirds of children with classical PKAN develop peripheral (side) vision loss and night blindness due to retinal degeneration. Cognitive functioning varies from person to person and can range from high average to below average. Premature death does occur; however, live span is variable. With improvements in medical care, a greater number of affected individuals are living into adulthood. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. Features of the atypical form usually progress more slowly and appear within the first three decades of life. Signs and symptoms vary, but the progression in the atypical form is usually slower. Symptoms are usually marked by speech difficulty such repetition of words or phrases (palilalia), rapid speech (tachylalia), and poor articulation/slurring (dysarthria). Psychiatric symptoms such as behavioral problems, personality changes, and depression are more commonly observed. While movement problems are a common feature, it usually develops later. Loss of independent walking often occurs 15-40 years after the initial development of symptoms. Retinal degeneration is rare in the atypical form. The Human Phenotype Ontology provides the following list of signs and symptoms for Pantothenate kinase-associated neurodegeneration. 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 retinal pigmentation 90% Gait disturbance 90% Neurological speech impairment 90% Abnormality of the cranial nerves 50% Abnormality of the foot 50% Chorea 50% Constipation 50% Feeding difficulties in infancy 50% Hyperreflexia 50% Hypertonia 50% Recurrent respiratory infections 50% Tremor 50% Weight loss 50% Abnormal joint morphology 7.5% Developmental regression 7.5% Seizures 7.5% Visual impairment 7.5% Abnormal pyramidal signs - Acanthocytosis - Akinesia - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blepharospasm - Bradykinesia - Cerebral degeneration - Choreoathetosis - Decreased muscle mass - Dementia - Depression - Dysarthria - Dysphagia - Dysphonia - Eye of the tiger anomaly of globus pallidus - Eyelid apraxia - Facial grimacing - Global brain atrophy - Hyperactivity - Hyperpigmentation of the skin - Motor tics - Myopathy - Neurodegeneration - Obsessive-compulsive trait - Optic atrophy - Orofacial dyskinesia - Parkinsonism - Pigmentary retinopathy - Rapidly progressive - Retinal degeneration - Rigidity - Spasticity - 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 treatments for Pantothenate kinase-associated neurodegeneration ?
How might pantothenate kinase-associated neurodegeneration (PKAN) be treated? Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. Baclofen and trihexyphenidyl remain the most effective drugs for the dystonia and spasticity associated with this condition. Botulinum toxin may be helpful for many affected individuals, especially in treating a limited body region. For example, injections in the facial muscles can greatly improve speech and eating abilities. Those with PKAN typically do not benefit from L-dopa. Deep brain stimulation (DBS) is also an option for relieving some symptoms; an international study of the effectiveness of DBS is currently underway. Recently, interest in chelating agents (agents that remove iron from the body) has also been revived, although the benefits have not yet been documented and systemic anemia remains a risk. A trial using deferriprone (a chelator) in PKAN is currently underway in Italy. Click on the link to learn more about this study.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Pantothenate kinase-associated neurodegeneration ? assistant How might pantothenate kinase-associated neurodegeneration (PKAN) be treated? Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. Baclofen and trihexyphenidyl remain the most effective drugs for the dystonia and spasticity associated with this condition. Botulinum toxin may be helpful for many affected individuals, especially in treating a limited body region. For example, injections in the facial muscles can greatly improve speech and eating abilities. Those with PKAN typically do not benefit from L-dopa. Deep brain stimulation (DBS) is also an option for relieving some symptoms; an international study of the effectiveness of DBS is currently underway. Recently, interest in chelating agents (agents that remove iron from the body) has also been revived, although the benefits have not yet been documented and systemic anemia remains a risk. A trial using deferriprone (a chelator) in PKAN is currently underway in Italy. Click on the link to learn more about this study.
What are the symptoms of Chromosome 17q11.2 deletion syndrome ?
What are the signs and symptoms of Chromosome 17q11.2 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q11.2 deletion 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 chromosome segregation 90% Abnormality of dental enamel 50% Alopecia 50% Cognitive impairment 50% Microcephaly 50% Short stature 50% Long foot 46% Intellectual disability 38% Abnormality of the eyelashes 7.5% Abnormality of the nasal alae 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Deviated nasal septum 7.5% Hypoplasia of the zygomatic bone 7.5% Long face 7.5% Macroorchidism 7.5% Midline defect of the nose 7.5% Neurological speech impairment 7.5% Seizures 7.5% Thin vermilion border 7.5% Axillary freckling 28/29 Cafe-au-lait spot 27/29 Cognitive impairment 27/29 Lisch nodules 27/29 Hypertelorism 25/29 Plexiform neurofibroma 22/29 Subcutaneous neurofibromas 22/29 Joint hypermobility 21/29 Spinal neurofibromas 9/14 Coarse facial features 17/29 Bone cyst 8/16 Delayed speech and language development 14/29 Large hands 13/28 Tall stature 13/28 Focal T2 hyperintense basal ganglia lesion 13/29 Muscular hypotonia 13/29 Specific learning disability 13/29 Scoliosis 12/28 Macrocephaly 9/23 Attention deficit hyperactivity disorder 8/24 Broad neck 9/29 Pectus excavatum 9/29 Abnormality of cardiovascular system morphology 8/28 Facial asymmetry 8/29 Neurofibrosarcoma 6/29 Optic glioma 5/27 Pes cavus 5/29 Low-set ears 4/29 Strabismus 4/29 Hearing impairment 3/29 Seizures 2/29 Autosomal dominant inheritance - Inguinal freckling - Overgrowth - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Chromosome 17q11.2 deletion syndrome ? assistant What are the signs and symptoms of Chromosome 17q11.2 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q11.2 deletion 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 chromosome segregation 90% Abnormality of dental enamel 50% Alopecia 50% Cognitive impairment 50% Microcephaly 50% Short stature 50% Long foot 46% Intellectual disability 38% Abnormality of the eyelashes 7.5% Abnormality of the nasal alae 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Deviated nasal septum 7.5% Hypoplasia of the zygomatic bone 7.5% Long face 7.5% Macroorchidism 7.5% Midline defect of the nose 7.5% Neurological speech impairment 7.5% Seizures 7.5% Thin vermilion border 7.5% Axillary freckling 28/29 Cafe-au-lait spot 27/29 Cognitive impairment 27/29 Lisch nodules 27/29 Hypertelorism 25/29 Plexiform neurofibroma 22/29 Subcutaneous neurofibromas 22/29 Joint hypermobility 21/29 Spinal neurofibromas 9/14 Coarse facial features 17/29 Bone cyst 8/16 Delayed speech and language development 14/29 Large hands 13/28 Tall stature 13/28 Focal T2 hyperintense basal ganglia lesion 13/29 Muscular hypotonia 13/29 Specific learning disability 13/29 Scoliosis 12/28 Macrocephaly 9/23 Attention deficit hyperactivity disorder 8/24 Broad neck 9/29 Pectus excavatum 9/29 Abnormality of cardiovascular system morphology 8/28 Facial asymmetry 8/29 Neurofibrosarcoma 6/29 Optic glioma 5/27 Pes cavus 5/29 Low-set ears 4/29 Strabismus 4/29 Hearing impairment 3/29 Seizures 2/29 Autosomal dominant inheritance - Inguinal freckling - Overgrowth - 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) Erdheim-Chester disease ?
Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. As a result, these tissues and organs become thickened, dense and fibrotic. Sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. Signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. Without successful treatment, organ failure can occur.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Erdheim-Chester disease ? assistant Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. As a result, these tissues and organs become thickened, dense and fibrotic. Sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. Signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. Without successful treatment, organ failure can occur.
What are the symptoms of Erdheim-Chester disease ?
What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester disease. 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 epiphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the genital system 90% Abnormality of the metaphyses 90% Bone pain 90% Diabetes insipidus 90% Hyperhidrosis 90% Increased bone mineral density 90% Multiple lipomas 90% Osteolysis 90% Osteomyelitis 90% Proptosis 90% Weight loss 90% Abdominal pain 50% Abnormality of the aortic valve 50% Joint swelling 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anemia 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aseptic necrosis 7.5% Congestive heart failure 7.5% Hyperreflexia 7.5% Incoordination 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Ptosis 7.5% Pulmonary fibrosis 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Skin rash 7.5% Visual impairment 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Erdheim-Chester disease ? assistant What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester disease. 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 epiphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the genital system 90% Abnormality of the metaphyses 90% Bone pain 90% Diabetes insipidus 90% Hyperhidrosis 90% Increased bone mineral density 90% Multiple lipomas 90% Osteolysis 90% Osteomyelitis 90% Proptosis 90% Weight loss 90% Abdominal pain 50% Abnormality of the aortic valve 50% Joint swelling 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anemia 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aseptic necrosis 7.5% Congestive heart failure 7.5% Hyperreflexia 7.5% Incoordination 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Ptosis 7.5% Pulmonary fibrosis 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Skin rash 7.5% Visual impairment 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 Erdheim-Chester disease ?
What causes Erdheim-Chester disease? The specific underlying cause of Erdheim-Chester disease is not known. It is not currently categorized as a cancer, infection or autoimmune disease. It it not believed to be contagious or genetic in nature.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Erdheim-Chester disease ? assistant What causes Erdheim-Chester disease? The specific underlying cause of Erdheim-Chester disease is not known. It is not currently categorized as a cancer, infection or autoimmune disease. It it not believed to be contagious or genetic in nature.
What is (are) Split hand split foot malformation autosomal recessive ?
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Split hand split foot malformation autosomal recessive ? assistant Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
What are the symptoms of SeSAME syndrome ?
What are the signs and symptoms of SeSAME syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SeSAME 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) Short stature 7.5% Chronic axonal neuropathy 5% Peripheral hypomyelination 5% Autosomal recessive inheritance - Cerebellar atrophy - Delayed speech and language development - Dysdiadochokinesis - Enuresis - Hyperaldosteronism - Hypocalciuria - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Increased circulating renin level - Infantile onset - Intellectual disability - Intention tremor - Muscular hypotonia - Polydipsia - Polyuria - Renal potassium wasting - Renal salt wasting - Renal sodium wasting - Salt craving - Seizures - Sensorineural hearing 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of SeSAME syndrome ? assistant What are the signs and symptoms of SeSAME syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SeSAME 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) Short stature 7.5% Chronic axonal neuropathy 5% Peripheral hypomyelination 5% Autosomal recessive inheritance - Cerebellar atrophy - Delayed speech and language development - Dysdiadochokinesis - Enuresis - Hyperaldosteronism - Hypocalciuria - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Increased circulating renin level - Infantile onset - Intellectual disability - Intention tremor - Muscular hypotonia - Polydipsia - Polyuria - Renal potassium wasting - Renal salt wasting - Renal sodium wasting - Salt craving - Seizures - Sensorineural hearing 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 Dandy-Walker malformation with facial hemangioma ?
What are the signs and symptoms of Dandy-Walker malformation with facial hemangioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with facial hemangioma. 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) Cavernous hemangioma 90% Cognitive impairment 90% Dandy-Walker malformation 90% Median cleft lip 90% Microcephaly 90% Seizures 90% 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Dandy-Walker malformation with facial hemangioma ? assistant What are the signs and symptoms of Dandy-Walker malformation with facial hemangioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with facial hemangioma. 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) Cavernous hemangioma 90% Cognitive impairment 90% Dandy-Walker malformation 90% Median cleft lip 90% Microcephaly 90% Seizures 90% 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) Hemochromatosis ?
Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and often don't appear until middle age or later. The condition may not be diagnosed until iron accumulation is excessive. Early symptoms may be vague, such as fatigue or weakness. Other symptoms or features may include joint pain, abdominal pain, loss of sex drive, arthritis, liver disease, diabetes, heart problems, and skin discoloration. Hemochromatosis may be hereditary or acquired (secondary) due to another condition such as anemia, chronic liver disease, or an infection. There is also a neonatal form. Hereditary hemochromatosis is classified by type based on age of onset, genetic cause and mode of inheritance: Hemochromotosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Treatment usually involves removing blood (phlebotomy), which prevents additional organ damage but does not reverse existing damage.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hemochromatosis ? assistant Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and often don't appear until middle age or later. The condition may not be diagnosed until iron accumulation is excessive. Early symptoms may be vague, such as fatigue or weakness. Other symptoms or features may include joint pain, abdominal pain, loss of sex drive, arthritis, liver disease, diabetes, heart problems, and skin discoloration. Hemochromatosis may be hereditary or acquired (secondary) due to another condition such as anemia, chronic liver disease, or an infection. There is also a neonatal form. Hereditary hemochromatosis is classified by type based on age of onset, genetic cause and mode of inheritance: Hemochromotosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Treatment usually involves removing blood (phlebotomy), which prevents additional organ damage but does not reverse existing damage.
What are the symptoms of Hemochromatosis ?
What are the signs and symptoms of Hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis. 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 glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular atrophy - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hemochromatosis ? assistant What are the signs and symptoms of Hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis. 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 glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular atrophy - 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 Hemochromatosis ?
What causes hemochromatosis? The underlying cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form. Hereditary hemochromatosis is caused by mutations in any of several genes: type 1 hemochromatosis - the HFE gene type 2 hemochromatosis - either the HFE2 or HAMP gene type 3 hemochromatosis - the TFR2 gene type 4 hemochromatosis - the SLC40A1 gene These genes give the body instructions to make proteins that help regulate how iron is absorbed, transported, and stored. Mutations in these genes impair how iron is absorbed during digestion and alter the distribution of iron throughout the body. This causes iron to accumulate in tissues and organs. Acquired hemochromatosis (or secondary hemochromatosis) is usually due to other blood-related disorders, such as thalassemia or certain anemias, or having many blood transfusions. Sometimes it occurs as a result of long-term alcoholism or other health conditions. The cause of neonatal hemochromatosis is not fully understood. However, a woman with an affected child has approximately an 80% chance to have another affected child. This likelihood of recurrence is not explained by normal inheritance patterns. Therefore, this form appears to be familial, but not inherited.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Hemochromatosis ? assistant What causes hemochromatosis? The underlying cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form. Hereditary hemochromatosis is caused by mutations in any of several genes: type 1 hemochromatosis - the HFE gene type 2 hemochromatosis - either the HFE2 or HAMP gene type 3 hemochromatosis - the TFR2 gene type 4 hemochromatosis - the SLC40A1 gene These genes give the body instructions to make proteins that help regulate how iron is absorbed, transported, and stored. Mutations in these genes impair how iron is absorbed during digestion and alter the distribution of iron throughout the body. This causes iron to accumulate in tissues and organs. Acquired hemochromatosis (or secondary hemochromatosis) is usually due to other blood-related disorders, such as thalassemia or certain anemias, or having many blood transfusions. Sometimes it occurs as a result of long-term alcoholism or other health conditions. The cause of neonatal hemochromatosis is not fully understood. However, a woman with an affected child has approximately an 80% chance to have another affected child. This likelihood of recurrence is not explained by normal inheritance patterns. Therefore, this form appears to be familial, but not inherited.
Is Hemochromatosis inherited ?
Is hemochromatosis inherited? Hereditary hemochromatosis is inherited in an autosomal recessive or autosomal dominant manner, depending on the type a person has. Types 1, 2, and 3 are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier. Type 4 is inherited in an autosomal dominant manner. This means having only one mutated copy of the responsible gene in each cell is enough to cause the condition. When a person with an autosomal dominant condition has children, each child has a 50% chance to inherit the mutated copy of the gene. In most cases, a person with type 4 hemochromatosis has one affected parent. Acquired hemochromatosis is not inherited. Neonatal hemochromatosis is also not inherited, but it does appear to be familial. A woman with an affected child has approximately an 80% chance to have another affected child. However, this likelihood of recurrence is not explained by normal inheritance patterns. The underlying cause of this type is not fully understood.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Hemochromatosis inherited ? assistant Is hemochromatosis inherited? Hereditary hemochromatosis is inherited in an autosomal recessive or autosomal dominant manner, depending on the type a person has. Types 1, 2, and 3 are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier. Type 4 is inherited in an autosomal dominant manner. This means having only one mutated copy of the responsible gene in each cell is enough to cause the condition. When a person with an autosomal dominant condition has children, each child has a 50% chance to inherit the mutated copy of the gene. In most cases, a person with type 4 hemochromatosis has one affected parent. Acquired hemochromatosis is not inherited. Neonatal hemochromatosis is also not inherited, but it does appear to be familial. A woman with an affected child has approximately an 80% chance to have another affected child. However, this likelihood of recurrence is not explained by normal inheritance patterns. The underlying cause of this type is not fully understood.
What are the symptoms of Spinocerebellar ataxia 21 ?
What are the signs and symptoms of Spinocerebellar ataxia 21? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 21. 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) Nystagmus 5% Aggressive behavior - Akinesia - Apathy - Autosomal dominant inheritance - Cerebellar atrophy - Cognitive impairment - Cogwheel rigidity - Dysarthria - Dysgraphia - Gait ataxia - Hyporeflexia - Impulsivity - Intellectual disability - Limb ataxia - Microsaccadic pursuit - Parkinsonism - Postural tremor - Progressive cerebellar ataxia - Scanning speech - Slow progression - Slow saccadic eye movements - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spinocerebellar ataxia 21 ? assistant What are the signs and symptoms of Spinocerebellar ataxia 21? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 21. 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) Nystagmus 5% Aggressive behavior - Akinesia - Apathy - Autosomal dominant inheritance - Cerebellar atrophy - Cognitive impairment - Cogwheel rigidity - Dysarthria - Dysgraphia - Gait ataxia - Hyporeflexia - Impulsivity - Intellectual disability - Limb ataxia - Microsaccadic pursuit - Parkinsonism - Postural tremor - Progressive cerebellar ataxia - Scanning speech - Slow progression - Slow saccadic eye movements - 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 Morquio syndrome B ?
What are the signs and symptoms of Morquio syndrome B? The Human Phenotype Ontology provides the following list of signs and symptoms for Morquio syndrome 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) Aortic valve stenosis - Autosomal recessive inheritance - Carious teeth - Cervical myelopathy - Cervical subluxation - Coarse facial features - Constricted iliac wings - Coxa valga - Decreased beta-galactosidase activity - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Genu valgum - Grayish enamel - Hearing impairment - Hepatomegaly - Hyperlordosis - Hypoplasia of the odontoid process - Inguinal hernia - Intimal thickening in the coronary arteries - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Kyphosis - Mandibular prognathia - Metaphyseal widening - Opacification of the corneal stroma - Osteoporosis - Ovoid vertebral bodies - Platyspondyly - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Scoliosis - Ulnar deviation of the wrist - Wide mouth - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Morquio syndrome B ? assistant What are the signs and symptoms of Morquio syndrome B? The Human Phenotype Ontology provides the following list of signs and symptoms for Morquio syndrome 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) Aortic valve stenosis - Autosomal recessive inheritance - Carious teeth - Cervical myelopathy - Cervical subluxation - Coarse facial features - Constricted iliac wings - Coxa valga - Decreased beta-galactosidase activity - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Genu valgum - Grayish enamel - Hearing impairment - Hepatomegaly - Hyperlordosis - Hypoplasia of the odontoid process - Inguinal hernia - Intimal thickening in the coronary arteries - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Kyphosis - Mandibular prognathia - Metaphyseal widening - Opacification of the corneal stroma - Osteoporosis - Ovoid vertebral bodies - Platyspondyly - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Scoliosis - Ulnar deviation of the wrist - Wide mouth - 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) Chromosome 16q deletion ?
Chromosome 16q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. 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 16q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 16q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 16. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Chromosome 16q deletion ? assistant Chromosome 16q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. 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 16q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 16q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 16. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
What are the symptoms of Anemia sideroblastic and spinocerebellar ataxia ?
What are the signs and symptoms of Anemia sideroblastic and spinocerebellar ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia sideroblastic and spinocerebellar ataxia. 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) Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Abnormality of movement 50% Cognitive impairment 50% Hyperreflexia 50% Intrauterine growth retardation 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Strabismus 7.5% Abnormality of metabolism/homeostasis - Babinski sign - Clonus - Dysarthria - Dysdiadochokinesis - Dysmetria - Hypochromic microcytic anemia - Intention tremor - Juvenile onset - Nonprogressive cerebellar ataxia - Sideroblastic anemia - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Anemia sideroblastic and spinocerebellar ataxia ? assistant What are the signs and symptoms of Anemia sideroblastic and spinocerebellar ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia sideroblastic and spinocerebellar ataxia. 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) Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Abnormality of movement 50% Cognitive impairment 50% Hyperreflexia 50% Intrauterine growth retardation 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Strabismus 7.5% Abnormality of metabolism/homeostasis - Babinski sign - Clonus - Dysarthria - Dysdiadochokinesis - Dysmetria - Hypochromic microcytic anemia - Intention tremor - Juvenile onset - Nonprogressive cerebellar ataxia - Sideroblastic anemia - 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 SCARF syndrome ?
What are the signs and symptoms of SCARF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SCARF 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 palate 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the nipples 90% Cognitive impairment 90% Craniosynostosis 90% Displacement of the external urethral meatus 90% Hyperextensible skin 90% Hypoplasia of penis 90% Joint hypermobility 90% Long philtrum 90% Prominent nasal bridge 90% Short neck 90% Thickened nuchal skin fold 90% Umbilical hernia 90% Abnormal form of the vertebral bodies 50% Abnormal hair quantity 50% Abnormality of dental enamel 50% Deep philtrum 50% Enlarged thorax 50% Epicanthus 50% Hepatomegaly 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Ptosis 50% Barrel-shaped chest - Bifid scrotum - Coronal craniosynostosis - Cryptorchidism - Cutis laxa - Diastasis recti - Hypoplasia of dental enamel - Hypoplastic nipples - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low anterior hairline - Low posterior hairline - Low-set ears - Micropenis - Perineal hypospadias - Posteriorly rotated ears - Short chin - Short sternum - Sparse hair - Strabismus - Webbed neck - Wide intermamillary distance - Wide nasal bridge - 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 SCARF syndrome ? assistant What are the signs and symptoms of SCARF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SCARF 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 palate 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the nipples 90% Cognitive impairment 90% Craniosynostosis 90% Displacement of the external urethral meatus 90% Hyperextensible skin 90% Hypoplasia of penis 90% Joint hypermobility 90% Long philtrum 90% Prominent nasal bridge 90% Short neck 90% Thickened nuchal skin fold 90% Umbilical hernia 90% Abnormal form of the vertebral bodies 50% Abnormal hair quantity 50% Abnormality of dental enamel 50% Deep philtrum 50% Enlarged thorax 50% Epicanthus 50% Hepatomegaly 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Ptosis 50% Barrel-shaped chest - Bifid scrotum - Coronal craniosynostosis - Cryptorchidism - Cutis laxa - Diastasis recti - Hypoplasia of dental enamel - Hypoplastic nipples - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low anterior hairline - Low posterior hairline - Low-set ears - Micropenis - Perineal hypospadias - Posteriorly rotated ears - Short chin - Short sternum - Sparse hair - Strabismus - Webbed neck - Wide intermamillary distance - Wide nasal bridge - 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) Mercury poisoning ?
Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems: Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, dental fillings and fluorescent light bulbs. This form of mercury is generally only harmful when small droplets become airborne and are inhaled. If this occurs, signs and symptoms of poisoning may include metallic taste, vomiting, difficulty breathing, coughing, and/or swollen, bleeding gums. In severe cases, long-term brain damage, permanent lung damage and even death may occur. Inorganic mercury is found in batteries, chemistry labs, and some disinfectants. This form of mercury is harmful when swallowed. Signs and symptoms of inorganic mercury poisoning vary based on the amount consumed, but may include burning in the stomach and throat; vomiting; and/or bloody diarrhea. Inorganic mercury can also affect the kidneys and brain if it enters the blood stream. Organic mercury can be found in fish. Some organisms convert fumes from burning coal into organic mercury. This form of mercury is harmful if inhaled, eaten, or placed on the skin for long periods of time. Long-term exposure to organic mercury may result in skin numbness or pain; tremor; inability to walk well; blindness; double vision; memory problems; seizures; or even death. Treatment is generally supportive and based on the signs and symptoms present in each person. Medications called chelators, which remove mercury and heavy metals from the body, are generally prescribed.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Mercury poisoning ? assistant Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems: Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, dental fillings and fluorescent light bulbs. This form of mercury is generally only harmful when small droplets become airborne and are inhaled. If this occurs, signs and symptoms of poisoning may include metallic taste, vomiting, difficulty breathing, coughing, and/or swollen, bleeding gums. In severe cases, long-term brain damage, permanent lung damage and even death may occur. Inorganic mercury is found in batteries, chemistry labs, and some disinfectants. This form of mercury is harmful when swallowed. Signs and symptoms of inorganic mercury poisoning vary based on the amount consumed, but may include burning in the stomach and throat; vomiting; and/or bloody diarrhea. Inorganic mercury can also affect the kidneys and brain if it enters the blood stream. Organic mercury can be found in fish. Some organisms convert fumes from burning coal into organic mercury. This form of mercury is harmful if inhaled, eaten, or placed on the skin for long periods of time. Long-term exposure to organic mercury may result in skin numbness or pain; tremor; inability to walk well; blindness; double vision; memory problems; seizures; or even death. Treatment is generally supportive and based on the signs and symptoms present in each person. Medications called chelators, which remove mercury and heavy metals from the body, are generally prescribed.
What are the symptoms of Chudley-Mccullough syndrome ?
What are the signs and symptoms of Chudley-Mccullough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley-Mccullough 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, mild 5% Seizures 5% Arachnoid cyst - Autosomal recessive inheritance - Cerebellar dysplasia - Cerebellar hypoplasia - Dysplastic corpus callosum - Gray matter heterotopias - Hydrocephalus - Hypoplasia of the corpus callosum - Large foramen magnum - Partial agenesis of the corpus callosum - Polymicrogyria - Severe sensorineural hearing impairment - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Chudley-Mccullough syndrome ? assistant What are the signs and symptoms of Chudley-Mccullough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley-Mccullough 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, mild 5% Seizures 5% Arachnoid cyst - Autosomal recessive inheritance - Cerebellar dysplasia - Cerebellar hypoplasia - Dysplastic corpus callosum - Gray matter heterotopias - Hydrocephalus - Hypoplasia of the corpus callosum - Large foramen magnum - Partial agenesis of the corpus callosum - Polymicrogyria - Severe sensorineural hearing impairment - 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 is (are) Warthin tumor ?
Warthin tumor is a benign tumor of the salivary gland. The first symptom is usually a painless, slow-growing bump in front of the ear, on the bottom of the mouth, or under the chin. Warthin tumors may increase in size over time, but few become cancerous. Though the cause is currently unknown, smoking is believed to increase the chance of developing Warthin tumor. Treatment may consist of surgery to remove the tumor or careful observation to watch for changes in the tumor over time.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Warthin tumor ? assistant Warthin tumor is a benign tumor of the salivary gland. The first symptom is usually a painless, slow-growing bump in front of the ear, on the bottom of the mouth, or under the chin. Warthin tumors may increase in size over time, but few become cancerous. Though the cause is currently unknown, smoking is believed to increase the chance of developing Warthin tumor. Treatment may consist of surgery to remove the tumor or careful observation to watch for changes in the tumor over time.
What are the symptoms of Warthin tumor ?
What are the signs and symptoms of Warthin tumor? Warthin tumor is a benign (noncancerous) tumor of the salivary glands. They most commonly arise in the parotid glands, the largest salivary glands which are located in each cheek above the jaw in front of the ears. Approximately 5-14% of cases are bilateral and 12-20% of affected people experience multicentric (more than one tumor which formed separately from one another) disease. The first symptom is usually a firm, painless bump. Without treatment, the swelling may gradually increase overtime which can cause facial nerve palsy (difficulty moving one side of the face).
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Warthin tumor ? assistant What are the signs and symptoms of Warthin tumor? Warthin tumor is a benign (noncancerous) tumor of the salivary glands. They most commonly arise in the parotid glands, the largest salivary glands which are located in each cheek above the jaw in front of the ears. Approximately 5-14% of cases are bilateral and 12-20% of affected people experience multicentric (more than one tumor which formed separately from one another) disease. The first symptom is usually a firm, painless bump. Without treatment, the swelling may gradually increase overtime which can cause facial nerve palsy (difficulty moving one side of the face).
What causes Warthin tumor ?
What causes Warthin tumor? The exact underlying cause of Warthin tumor is currently unknown. However, smoking is thought to increase the risk of developing the tumor. Some studies suggest that radiation exposure and autoimmune disorders may also be associated with Warthin tumor.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Warthin tumor ? assistant What causes Warthin tumor? The exact underlying cause of Warthin tumor is currently unknown. However, smoking is thought to increase the risk of developing the tumor. Some studies suggest that radiation exposure and autoimmune disorders may also be associated with Warthin tumor.
How to diagnose Warthin tumor ?
How is Warthin tumor diagnosed? A diagnosis of Warthin tumor is often suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis and rule out other conditions that cause similar features: X-rays of the salivary gland (called a ptyalogram or sialogram) CT scan, MRI and/or ultrasound Salivary gland biopsy
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Warthin tumor ? assistant How is Warthin tumor diagnosed? A diagnosis of Warthin tumor is often suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis and rule out other conditions that cause similar features: X-rays of the salivary gland (called a ptyalogram or sialogram) CT scan, MRI and/or ultrasound Salivary gland biopsy
What are the treatments for Warthin tumor ?
How might Warthin tumor be treated? Treatment of Warthin tumor generally includes surgery to remove the tumor or careful observation to watch for changes in the tumor over time. Because Warthin tumor is almost always benign, additional treatment (i.e. radiation therapy and/or chemotherapy) is rarely needed.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Warthin tumor ? assistant How might Warthin tumor be treated? Treatment of Warthin tumor generally includes surgery to remove the tumor or careful observation to watch for changes in the tumor over time. Because Warthin tumor is almost always benign, additional treatment (i.e. radiation therapy and/or chemotherapy) is rarely needed.
What are the symptoms of Karak syndrome ?
What are the signs and symptoms of Karak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Karak 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 recessive inheritance - Babinski sign - Bradykinesia - Cerebellar atrophy - Cerebral atrophy - Chorea - Delayed speech and language development - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysphagia - Dystonia - Emotional lability - Feeding difficulties - Gait ataxia - Hyperactivity - Impaired smooth pursuit - Impulsivity - Intention tremor - Mental deterioration - Neurodegeneration - Neurofibrillary tangles - Nystagmus - Optic atrophy - Phenotypic variability - Progressive - Seizures - Short attention span - Spasticity - Talipes calcaneovalgus - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Karak syndrome ? assistant What are the signs and symptoms of Karak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Karak 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 recessive inheritance - Babinski sign - Bradykinesia - Cerebellar atrophy - Cerebral atrophy - Chorea - Delayed speech and language development - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysphagia - Dystonia - Emotional lability - Feeding difficulties - Gait ataxia - Hyperactivity - Impaired smooth pursuit - Impulsivity - Intention tremor - Mental deterioration - Neurodegeneration - Neurofibrillary tangles - Nystagmus - Optic atrophy - Phenotypic variability - Progressive - Seizures - Short attention span - Spasticity - Talipes calcaneovalgus - 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 Dystonia 11 ?
What are the signs and symptoms of Dystonia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 11. 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) Muscular hypotonia 5% Agoraphobia - Anxiety - Autosomal dominant inheritance - Depression - Incomplete penetrance - Juvenile onset - Myoclonus - Obsessive-compulsive behavior - Torticollis - Tremor - Writer's cramp - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Dystonia 11 ? assistant What are the signs and symptoms of Dystonia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 11. 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) Muscular hypotonia 5% Agoraphobia - Anxiety - Autosomal dominant inheritance - Depression - Incomplete penetrance - Juvenile onset - Myoclonus - Obsessive-compulsive behavior - Torticollis - Tremor - Writer's cramp - 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) Sotos syndrome ?
Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Sotos syndrome ? assistant Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).
What are the symptoms of Sotos syndrome ?
What are the signs and symptoms of Sotos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sotos 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) Accelerated skeletal maturation 90% Cognitive impairment 90% Depressed nasal ridge 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Tall stature 90% Advanced eruption of teeth 50% Anteverted nares 50% Conductive hearing impairment 50% Dolichocephaly 50% Hypoglycemia 50% Obesity 50% Precocious puberty 50% Abnormality of the fingernails 7.5% Abnormality of the hip bone 7.5% Abnormality of the ureter 7.5% Behavioral abnormality 7.5% Coarse facial features 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% EEG abnormality 7.5% Genu valgum 7.5% Genu varum 7.5% Hyperreflexia 7.5% Neoplasm of the nervous system 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Presacral teratoma 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Abnormal glucose tolerance - Atria septal defect - Autosomal dominant inheritance - Cavum septum pellucidum - Enlarged cisterna magna - Expressive language delay - High anterior hairline - High palate - Hypermetropia - Intellectual disability - Joint laxity - Large hands - Long foot - Narrow palate - Neonatal hypotonia - Nephroblastoma (Wilms tumor) - Nystagmus - Otitis media - Partial agenesis of the corpus callosum - Pes planus - Pointed chin - Poor coordination - Small nail - Sporadic - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Sotos syndrome ? assistant What are the signs and symptoms of Sotos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sotos 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) Accelerated skeletal maturation 90% Cognitive impairment 90% Depressed nasal ridge 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Tall stature 90% Advanced eruption of teeth 50% Anteverted nares 50% Conductive hearing impairment 50% Dolichocephaly 50% Hypoglycemia 50% Obesity 50% Precocious puberty 50% Abnormality of the fingernails 7.5% Abnormality of the hip bone 7.5% Abnormality of the ureter 7.5% Behavioral abnormality 7.5% Coarse facial features 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% EEG abnormality 7.5% Genu valgum 7.5% Genu varum 7.5% Hyperreflexia 7.5% Neoplasm of the nervous system 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Presacral teratoma 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Abnormal glucose tolerance - Atria septal defect - Autosomal dominant inheritance - Cavum septum pellucidum - Enlarged cisterna magna - Expressive language delay - High anterior hairline - High palate - Hypermetropia - Intellectual disability - Joint laxity - Large hands - Long foot - Narrow palate - Neonatal hypotonia - Nephroblastoma (Wilms tumor) - Nystagmus - Otitis media - Partial agenesis of the corpus callosum - Pes planus - Pointed chin - Poor coordination - Small nail - Sporadic - 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.
Is Sotos syndrome inherited ?
How is Sotos syndrome inherited? Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from a parent. In these cases, the condition is the result of a new (de novo) mutation that occurred for the first time in the affected person. Only about 5% of people with Sotos syndrome have an affected parent and inherit the condition from that parent. If a parent of an affected person with an identified NSD1 mutation does not have any features of Sotos syndrome, that parent is very unlikely to have a mutation in the gene. This can be confirmed with genetic testing if the mutation has been identified in the child. If a person with Sotos syndrome has children, each child has a 50% (1 in 2) chance to inherit the mutation. However, the specific features and severity can vary from one generation to the next, so it is not possible to predict how a child will be affected.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Sotos syndrome inherited ? assistant How is Sotos syndrome inherited? Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from a parent. In these cases, the condition is the result of a new (de novo) mutation that occurred for the first time in the affected person. Only about 5% of people with Sotos syndrome have an affected parent and inherit the condition from that parent. If a parent of an affected person with an identified NSD1 mutation does not have any features of Sotos syndrome, that parent is very unlikely to have a mutation in the gene. This can be confirmed with genetic testing if the mutation has been identified in the child. If a person with Sotos syndrome has children, each child has a 50% (1 in 2) chance to inherit the mutation. However, the specific features and severity can vary from one generation to the next, so it is not possible to predict how a child will be affected.
What are the symptoms of Acrorenal mandibular syndrome ?
What are the signs and symptoms of Acrorenal mandibular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrorenal mandibular 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% Aplasia/Hypoplasia of the radius 90% Renal hypoplasia/aplasia 90% Split foot 90% Split hand 90% Abnormality of female internal genitalia 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the palate 50% Abnormality of the ribs 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the lungs 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Oligohydramnios 50% Pectus carinatum 50% Short neck 50% Abnormal form of the vertebral bodies 7.5% Abnormal lung lobation 7.5% Aplasia/Hypoplasia of the tongue 7.5% Congenital diaphragmatic hernia 7.5% Finger syndactyly 7.5% Kyphosis 7.5% Narrow face 7.5% Oral cleft 7.5% Scoliosis 7.5% Short philtrum 7.5% Sprengel anomaly 7.5% Tracheoesophageal fistula 7.5% Abnormal sacral segmentation - Abnormality of the cardiovascular system - Abnormality of the ureter - Absent nipple - Autosomal recessive inheritance - Bicornuate uterus - Butterfly vertebrae - Dolichocephaly - Elbow flexion contracture - Epicanthus - Foot polydactyly - Hand polydactyly - Hemivertebrae - High palate - Hip dislocation - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic scapulae - Kyphoscoliosis - Low-set ears - Missing ribs - Narrow chest - Narrow palate - Polycystic kidney dysplasia - Posteriorly rotated ears - Pulmonary hypoplasia - Renal agenesis - Rudimentary fibula - Rudimentary to absent tibiae - Thin ribs - Toe syndactyly - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Acrorenal mandibular syndrome ? assistant What are the signs and symptoms of Acrorenal mandibular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrorenal mandibular 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% Aplasia/Hypoplasia of the radius 90% Renal hypoplasia/aplasia 90% Split foot 90% Split hand 90% Abnormality of female internal genitalia 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the palate 50% Abnormality of the ribs 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the lungs 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Oligohydramnios 50% Pectus carinatum 50% Short neck 50% Abnormal form of the vertebral bodies 7.5% Abnormal lung lobation 7.5% Aplasia/Hypoplasia of the tongue 7.5% Congenital diaphragmatic hernia 7.5% Finger syndactyly 7.5% Kyphosis 7.5% Narrow face 7.5% Oral cleft 7.5% Scoliosis 7.5% Short philtrum 7.5% Sprengel anomaly 7.5% Tracheoesophageal fistula 7.5% Abnormal sacral segmentation - Abnormality of the cardiovascular system - Abnormality of the ureter - Absent nipple - Autosomal recessive inheritance - Bicornuate uterus - Butterfly vertebrae - Dolichocephaly - Elbow flexion contracture - Epicanthus - Foot polydactyly - Hand polydactyly - Hemivertebrae - High palate - Hip dislocation - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic scapulae - Kyphoscoliosis - Low-set ears - Missing ribs - Narrow chest - Narrow palate - Polycystic kidney dysplasia - Posteriorly rotated ears - Pulmonary hypoplasia - Renal agenesis - Rudimentary fibula - Rudimentary to absent tibiae - Thin ribs - Toe syndactyly - 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 Fibular hypoplasia and complex brachydactyly ?
What are the signs and symptoms of Fibular hypoplasia and complex brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular hypoplasia and complex brachydactyly. 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 epiphysis morphology 90% Abnormality of the hip bone 90% Abnormality of the thumb 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Brachydactyly syndrome 90% Fibular aplasia 90% Limitation of joint mobility 90% Micromelia 90% Narrow nasal bridge 90% Short stature 90% Single transverse palmar crease 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Absent toe 50% Deformed tarsal bones 50% Deviation of finger 50% Malaligned carpal bone 50% Patellar dislocation 50% Short metacarpal 50% Short metatarsal 50% Short phalanx of finger 50% Small nail 50% Rhizomelia 33% Talipes equinovalgus 33% Aplastic/hypoplastic toenail - Autosomal recessive inheritance - Fibular 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Fibular hypoplasia and complex brachydactyly ? assistant What are the signs and symptoms of Fibular hypoplasia and complex brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular hypoplasia and complex brachydactyly. 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 epiphysis morphology 90% Abnormality of the hip bone 90% Abnormality of the thumb 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Brachydactyly syndrome 90% Fibular aplasia 90% Limitation of joint mobility 90% Micromelia 90% Narrow nasal bridge 90% Short stature 90% Single transverse palmar crease 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Absent toe 50% Deformed tarsal bones 50% Deviation of finger 50% Malaligned carpal bone 50% Patellar dislocation 50% Short metacarpal 50% Short metatarsal 50% Short phalanx of finger 50% Small nail 50% Rhizomelia 33% Talipes equinovalgus 33% Aplastic/hypoplastic toenail - Autosomal recessive inheritance - Fibular 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 is (are) Antisynthetase syndrome ?
Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. The exact underlying cause is unknown; however, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Treatment is based on the signs and symptoms present in each person but may include corticosteroids, immunosuppressive medications, and/or physical therapy.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Antisynthetase syndrome ? assistant Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. The exact underlying cause is unknown; however, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Treatment is based on the signs and symptoms present in each person but may include corticosteroids, immunosuppressive medications, and/or physical therapy.
What are the symptoms of Antisynthetase syndrome ?
What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or dysphagia) Mechanic's hands (thickened skin of tips and margins of the fingers) Raynaud phenomenon Some studies suggest that affected people may be at an increased risk for various types of cancer, as well. The Human Phenotype Ontology provides the following list of signs and symptoms for Antisynthetase 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) Autoimmunity 90% Chest pain 90% Muscle weakness 90% Myalgia 90% Myositis 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Restrictive lung disease 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Dry skin 50% Edema 50% EMG abnormality 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Muscular hypotonia 50% Xerostomia 50% Abnormality of the aortic valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the voice 7.5% Chondrocalcinosis 7.5% Feeding difficulties in infancy 7.5% Joint dislocation 7.5% Neoplasm 7.5% Pruritus 7.5% Pulmonary hypertension 7.5% Recurrent respiratory infections 7.5% Skin rash 7.5% Telangiectasia of the skin 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Antisynthetase syndrome ? assistant What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or dysphagia) Mechanic's hands (thickened skin of tips and margins of the fingers) Raynaud phenomenon Some studies suggest that affected people may be at an increased risk for various types of cancer, as well. The Human Phenotype Ontology provides the following list of signs and symptoms for Antisynthetase 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) Autoimmunity 90% Chest pain 90% Muscle weakness 90% Myalgia 90% Myositis 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Restrictive lung disease 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Dry skin 50% Edema 50% EMG abnormality 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Muscular hypotonia 50% Xerostomia 50% Abnormality of the aortic valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the voice 7.5% Chondrocalcinosis 7.5% Feeding difficulties in infancy 7.5% Joint dislocation 7.5% Neoplasm 7.5% Pruritus 7.5% Pulmonary hypertension 7.5% Recurrent respiratory infections 7.5% Skin rash 7.5% Telangiectasia of the skin 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 Antisynthetase syndrome ?
What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Aminoacyl-tRNA synthetases are involved in protein synthesis within the body. The exact role of autoantibodies in causation of antisynthetase syndrome is not yet known.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Antisynthetase syndrome ? assistant What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Aminoacyl-tRNA synthetases are involved in protein synthesis within the body. The exact role of autoantibodies in causation of antisynthetase syndrome is not yet known.
How to diagnose Antisynthetase syndrome ?
How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and inform treatment. This testing varies based on the signs and symptoms present in each person, but may include: Blood tests to evaluate levels of muscle enzymes such as creatine kinase and aldolase Laboratory tests to look for the presence of autoantibodies associated with antisynthetase syndrome High resolution computed tomography (HRCT) of the lungs Electromyography (EMG) Muscle biopsy Pulmonary function testing Magnetic resonance imaging (MRI) of affected muscles Evaluation of swallowing difficulties and aspiration risk Lung biopsy
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Antisynthetase syndrome ? assistant How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and inform treatment. This testing varies based on the signs and symptoms present in each person, but may include: Blood tests to evaluate levels of muscle enzymes such as creatine kinase and aldolase Laboratory tests to look for the presence of autoantibodies associated with antisynthetase syndrome High resolution computed tomography (HRCT) of the lungs Electromyography (EMG) Muscle biopsy Pulmonary function testing Magnetic resonance imaging (MRI) of affected muscles Evaluation of swallowing difficulties and aspiration risk Lung biopsy
What are the treatments for Antisynthetase syndrome ?
What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications may also be recommended, especially in people with severe muscle weakness or symptomatic interstitial lung disease. Physical therapy is often necessary to improve weakness, reduce further muscle wasting from disuse, and prevent muscle contractures.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Antisynthetase syndrome ? assistant What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications may also be recommended, especially in people with severe muscle weakness or symptomatic interstitial lung disease. Physical therapy is often necessary to improve weakness, reduce further muscle wasting from disuse, and prevent muscle contractures.
What is (are) Congenital pulmonary alveolar proteinosis ?
Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth. In this condition, a type of protein builds up in the air sacs (alveoli) of the lungs, making breathing difficult. Congenital pulmonary alveolar proteinosis is caused by mutations in the SFTPB, SFTPC, ABCA3, or CSF2RA gene, and it is typically inherited in an autosomal recessive pattern.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Congenital pulmonary alveolar proteinosis ? assistant Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth. In this condition, a type of protein builds up in the air sacs (alveoli) of the lungs, making breathing difficult. Congenital pulmonary alveolar proteinosis is caused by mutations in the SFTPB, SFTPC, ABCA3, or CSF2RA gene, and it is typically inherited in an autosomal recessive pattern.
What are the symptoms of Congenital pulmonary alveolar proteinosis ?
What are the signs and symptoms of Congenital pulmonary alveolar proteinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary alveolar proteinosis. 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 - Alveolar proteinosis - Apnea - Autosomal recessive inheritance - Clubbing - Cyanosis - Desquamative interstitial pneumonitis - Dyspnea - Failure to thrive - Heterogeneous - Interstitial pulmonary disease - Pulmonary hypertension - Rapidly progressive - Respiratory distress - Respiratory failure - Tachypnea - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Congenital pulmonary alveolar proteinosis ? assistant What are the signs and symptoms of Congenital pulmonary alveolar proteinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary alveolar proteinosis. 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 - Alveolar proteinosis - Apnea - Autosomal recessive inheritance - Clubbing - Cyanosis - Desquamative interstitial pneumonitis - Dyspnea - Failure to thrive - Heterogeneous - Interstitial pulmonary disease - Pulmonary hypertension - Rapidly progressive - Respiratory distress - Respiratory failure - Tachypnea - 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 Cardiac valvular dysplasia, X-linked ?
What are the signs and symptoms of Cardiac valvular dysplasia, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiac valvular dysplasia, X-linked. 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 - Aortic regurgitation - Congestive heart failure - Mitral regurgitation - Mitral valve prolapse - Short chordae tendineae of the mitral valve - Short chordae tendineae of the tricuspid valve - Tricuspid regurgitation - 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 Cardiac valvular dysplasia, X-linked ? assistant What are the signs and symptoms of Cardiac valvular dysplasia, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiac valvular dysplasia, X-linked. 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 - Aortic regurgitation - Congestive heart failure - Mitral regurgitation - Mitral valve prolapse - Short chordae tendineae of the mitral valve - Short chordae tendineae of the tricuspid valve - Tricuspid regurgitation - 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 Thompson Baraitser syndrome ?
What are the signs and symptoms of Thompson Baraitser syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thompson Baraitser 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) 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 Thompson Baraitser syndrome ? assistant What are the signs and symptoms of Thompson Baraitser syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thompson Baraitser 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) 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 Gorlin Bushkell Jensen syndrome ?
What are the signs and symptoms of Gorlin Bushkell Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gorlin Bushkell Jensen 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 fingernails 90% Abnormality of the toenails 90% Adenoma sebaceum 90% Nephrolithiasis 90% Blepharitis 50% Photophobia 50% Type II diabetes mellitus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Concave nail - Leukonychia - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Gorlin Bushkell Jensen syndrome ? assistant What are the signs and symptoms of Gorlin Bushkell Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gorlin Bushkell Jensen 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 fingernails 90% Abnormality of the toenails 90% Adenoma sebaceum 90% Nephrolithiasis 90% Blepharitis 50% Photophobia 50% Type II diabetes mellitus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Concave nail - Leukonychia - 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) Glioblastoma ?
Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. There is currently no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Glioblastoma ? assistant Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. There is currently no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy.
What are the symptoms of Glioblastoma ?
What are the signs and symptoms of glioblastoma? Signs and symptoms of glioblastoma vary depending on the size and location of the tumor but may include: Headache Nausea and vomiting Drowsiness Changes in personality Weakness on one side of the body Memory loss Speech difficulty Changes in vision Seizures
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Glioblastoma ? assistant What are the signs and symptoms of glioblastoma? Signs and symptoms of glioblastoma vary depending on the size and location of the tumor but may include: Headache Nausea and vomiting Drowsiness Changes in personality Weakness on one side of the body Memory loss Speech difficulty Changes in vision Seizures
What causes Glioblastoma ?
What causes glioblastoma? In most cases, the exact underlying cause of glioblastoma is unknown. In rare cases, they can occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. In these cases, affected people usually have other characteristic features of the condition that are all caused by changes (mutations) in a specific gene.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Glioblastoma ? assistant What causes glioblastoma? In most cases, the exact underlying cause of glioblastoma is unknown. In rare cases, they can occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. In these cases, affected people usually have other characteristic features of the condition that are all caused by changes (mutations) in a specific gene.
Is Glioblastoma inherited ?
Is glioblastoma inherited? Most glioblastomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. All of these conditions are inherited in an autosomal dominant manner.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Glioblastoma inherited ? assistant Is glioblastoma inherited? Most glioblastomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. All of these conditions are inherited in an autosomal dominant manner.
How to diagnose Glioblastoma ?
Is genetic testing available for glioblastoma? Genetic testing is not available for many people with glioblastoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to glioblastoma such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It provides a list of laboratories performing genetic testing for neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is glioblastoma diagnosed? Glioblastoma is typically diagnosed based on a physical exam that identifies characteristic symptoms and various imaging studies such as computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. These imaging studies will also provide information regarding the size of the tumor and which parts of the brain are affected. Surgical removal of the tumor or a small biopsy may confirm the diagnosis.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Glioblastoma ? assistant Is genetic testing available for glioblastoma? Genetic testing is not available for many people with glioblastoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to glioblastoma such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It provides a list of laboratories performing genetic testing for neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is glioblastoma diagnosed? Glioblastoma is typically diagnosed based on a physical exam that identifies characteristic symptoms and various imaging studies such as computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. These imaging studies will also provide information regarding the size of the tumor and which parts of the brain are affected. Surgical removal of the tumor or a small biopsy may confirm the diagnosis.
What are the treatments for Glioblastoma ?
How might glioblastoma be treated? Unfortunately, there is no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy. The best treatment options for each person depend on many factors including the size and location of the tumor; the extent to which the tumor has grown into the surrounding normal brain tissues; and the affected person's age and overall health. Glioblastoma is often treated with surgery initially to remove as much of the tumor as possible. In most cases, it is not possible to remove the entire tumor so additional treatment with radiation therapy and/or chemotherapy is necessary. In elderly people or people in whom surgery is not an option, radiation therapy and/or chemotherapy may be used.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Glioblastoma ? assistant How might glioblastoma be treated? Unfortunately, there is no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy. The best treatment options for each person depend on many factors including the size and location of the tumor; the extent to which the tumor has grown into the surrounding normal brain tissues; and the affected person's age and overall health. Glioblastoma is often treated with surgery initially to remove as much of the tumor as possible. In most cases, it is not possible to remove the entire tumor so additional treatment with radiation therapy and/or chemotherapy is necessary. In elderly people or people in whom surgery is not an option, radiation therapy and/or chemotherapy may be used.
What is (are) Goldberg-Shprintzen megacolon syndrome ?
Goldberg-Shprintzen megacolon syndrome is a very rare genetic condition characterized by Hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. This condition has been described in about 15 individuals to date. Some of the reported cases also had iris coloboma, hypotonia, epilepsy, and ptosis. One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias, syndactyly between the second and third fingers, and clubfeet. This condition appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in the KIAA1279 gene.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Goldberg-Shprintzen megacolon syndrome ? assistant Goldberg-Shprintzen megacolon syndrome is a very rare genetic condition characterized by Hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. This condition has been described in about 15 individuals to date. Some of the reported cases also had iris coloboma, hypotonia, epilepsy, and ptosis. One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias, syndactyly between the second and third fingers, and clubfeet. This condition appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in the KIAA1279 gene.
What are the symptoms of Goldberg-Shprintzen megacolon syndrome ?
What are the signs and symptoms of Goldberg-Shprintzen megacolon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Goldberg-Shprintzen megacolon 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) Aganglionic megacolon 90% Cleft palate 90% Cognitive impairment 90% Microcephaly 90% Short stature 90% Iris coloboma 50% Muscular hypotonia 50% Ptosis 50% Abnormal hair quantity 7.5% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cerebral cortical atrophy 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Hypertelorism 7.5% Macrotia 7.5% Pointed chin 7.5% Seizures 7.5% Sloping forehead 7.5% Ventriculomegaly 7.5% Wide nasal bridge 7.5% Autosomal recessive inheritance - Blue sclerae - Bulbous nose - Clinodactyly - Corneal erosion - Corneal ulceration - Highly arched eyebrow - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Megalocornea - Pachygyria - Polymicrogyria - Prominent nasal bridge - Short neck - Short philtrum - Small hand - Sparse hair - Synophrys - Tapered finger - Telecanthus - Thick eyebrow - Thick vermilion border - Wide intermamillary distance - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Goldberg-Shprintzen megacolon syndrome ? assistant What are the signs and symptoms of Goldberg-Shprintzen megacolon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Goldberg-Shprintzen megacolon 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) Aganglionic megacolon 90% Cleft palate 90% Cognitive impairment 90% Microcephaly 90% Short stature 90% Iris coloboma 50% Muscular hypotonia 50% Ptosis 50% Abnormal hair quantity 7.5% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cerebral cortical atrophy 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Hypertelorism 7.5% Macrotia 7.5% Pointed chin 7.5% Seizures 7.5% Sloping forehead 7.5% Ventriculomegaly 7.5% Wide nasal bridge 7.5% Autosomal recessive inheritance - Blue sclerae - Bulbous nose - Clinodactyly - Corneal erosion - Corneal ulceration - Highly arched eyebrow - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Megalocornea - Pachygyria - Polymicrogyria - Prominent nasal bridge - Short neck - Short philtrum - Small hand - Sparse hair - Synophrys - Tapered finger - Telecanthus - Thick eyebrow - Thick vermilion border - Wide intermamillary distance - 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) Occipital horn syndrome ?
Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints. Individuals with OHS are said to have normal or slightly reduced intelligence. This condition is considered to be a mild type of Menkes diseases, which affects copper levels in the body. Occipital horn syndrome may be caused by mutations in the ATP7A gene, and it is inherited in an x-linked recessive pattern.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Occipital horn syndrome ? assistant Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints. Individuals with OHS are said to have normal or slightly reduced intelligence. This condition is considered to be a mild type of Menkes diseases, which affects copper levels in the body. Occipital horn syndrome may be caused by mutations in the ATP7A gene, and it is inherited in an x-linked recessive pattern.
What are the symptoms of Occipital horn syndrome ?
What are the signs and symptoms of Occipital horn syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn 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 fontanelles or cranial sutures 90% Cerebral calcification 90% Cognitive impairment 90% Exostoses 90% Hyperextensible skin 90% Joint hypermobility 90% Abnormality of the liver 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the wrist 50% Aneurysm 50% Atypical scarring of skin 50% Brachydactyly syndrome 50% Bruising susceptibility 50% Elbow dislocation 50% Feeding difficulties in infancy 50% Hypothermia 50% Long philtrum 50% Muscular hypotonia 50% Narrow chest 50% Pectus carinatum 50% Pectus excavatum 50% Platyspondyly 50% Reduced bone mineral density 50% Synostosis of joints 50% Venous insufficiency 50% Abnormality of the fibula 7.5% Abnormality of the hip bone 7.5% Abnormality of the humerus 7.5% Abnormality of the pinna 7.5% Abnormality of the shoulder 7.5% Abnormality of the tibia 7.5% Bladder diverticulum 7.5% Coarse hair 7.5% Genu valgum 7.5% Hernia of the abdominal wall 7.5% High forehead 7.5% Kyphosis 7.5% Osteolysis 7.5% Pes planus 7.5% Recurrent urinary tract infections 7.5% Scoliosis 7.5% Bladder carcinoma - Broad clavicles - Broad ribs - Capitate-hamate fusion - Carotid artery tortuosity - Chronic diarrhea - Convex nasal ridge - Coxa valga - Hiatus hernia - High palate - Hydronephrosis - Joint laxity - Limited elbow extension - Limited knee extension - Long face - Long neck - Narrow face - Orthostatic hypotension - Osteoporosis - Pelvic bone exostoses - Persistent open anterior fontanelle - Redundant skin - Short clavicles - Short humerus - Soft skin - Ureteral obstruction - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Occipital horn syndrome ? assistant What are the signs and symptoms of Occipital horn syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn 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 fontanelles or cranial sutures 90% Cerebral calcification 90% Cognitive impairment 90% Exostoses 90% Hyperextensible skin 90% Joint hypermobility 90% Abnormality of the liver 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the wrist 50% Aneurysm 50% Atypical scarring of skin 50% Brachydactyly syndrome 50% Bruising susceptibility 50% Elbow dislocation 50% Feeding difficulties in infancy 50% Hypothermia 50% Long philtrum 50% Muscular hypotonia 50% Narrow chest 50% Pectus carinatum 50% Pectus excavatum 50% Platyspondyly 50% Reduced bone mineral density 50% Synostosis of joints 50% Venous insufficiency 50% Abnormality of the fibula 7.5% Abnormality of the hip bone 7.5% Abnormality of the humerus 7.5% Abnormality of the pinna 7.5% Abnormality of the shoulder 7.5% Abnormality of the tibia 7.5% Bladder diverticulum 7.5% Coarse hair 7.5% Genu valgum 7.5% Hernia of the abdominal wall 7.5% High forehead 7.5% Kyphosis 7.5% Osteolysis 7.5% Pes planus 7.5% Recurrent urinary tract infections 7.5% Scoliosis 7.5% Bladder carcinoma - Broad clavicles - Broad ribs - Capitate-hamate fusion - Carotid artery tortuosity - Chronic diarrhea - Convex nasal ridge - Coxa valga - Hiatus hernia - High palate - Hydronephrosis - Joint laxity - Limited elbow extension - Limited knee extension - Long face - Long neck - Narrow face - Orthostatic hypotension - Osteoporosis - Pelvic bone exostoses - Persistent open anterior fontanelle - Redundant skin - Short clavicles - Short humerus - Soft skin - Ureteral obstruction - 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.
How to diagnose Occipital horn syndrome ?
Is genetic testing available for occipital horn syndrome?
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Occipital horn syndrome ? assistant Is genetic testing available for occipital horn syndrome?
What is (are) Frontotemporal dementia ?
Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavior, decreased energy and motivation) or problems with language (e.g., difficulty making or understanding speech). Spatial skills and memory remain intact. There is a strong genetic component to the disease; it often runs in families. There is no cure for frontotemporal dementia at this time, as a result treatment remains supportive. Although the name and classification of FTD has been a topic of discussion for over a century, the current classification of the syndrome groups together Picks disease, primary progressive aphasia, and semantic dementia as FTD. Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex. You can click on the links to view the GARD pages on these conditions.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Frontotemporal dementia ? assistant Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavior, decreased energy and motivation) or problems with language (e.g., difficulty making or understanding speech). Spatial skills and memory remain intact. There is a strong genetic component to the disease; it often runs in families. There is no cure for frontotemporal dementia at this time, as a result treatment remains supportive. Although the name and classification of FTD has been a topic of discussion for over a century, the current classification of the syndrome groups together Picks disease, primary progressive aphasia, and semantic dementia as FTD. Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex. You can click on the links to view the GARD pages on these conditions.
What are the symptoms of Frontotemporal dementia ?
What are the signs and symptoms of Frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia. 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 - Apathy - Autosomal dominant inheritance - Disinhibition - Frontal lobe dementia - Frontotemporal dementia - Hyperorality - Inappropriate laughter - Inappropriate sexual behavior - Irritability - Language impairment - Neuronal loss in central nervous system - Parkinsonism - Personality changes - Polyphagia - Primitive reflexes (palmomental, snout, glabellar) - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Frontotemporal dementia ? assistant What are the signs and symptoms of Frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia. 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 - Apathy - Autosomal dominant inheritance - Disinhibition - Frontal lobe dementia - Frontotemporal dementia - Hyperorality - Inappropriate laughter - Inappropriate sexual behavior - Irritability - Language impairment - Neuronal loss in central nervous system - Parkinsonism - Personality changes - Polyphagia - Primitive reflexes (palmomental, snout, glabellar) - 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 Trichothiodystrophy photosensitive ?
What are the signs and symptoms of Trichothiodystrophy photosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy photosensitive. 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 - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Trichothiodystrophy photosensitive ? assistant What are the signs and symptoms of Trichothiodystrophy photosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy photosensitive. 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 - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - 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) Pseudohypoparathyroidism ?
Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). The symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). These symptoms are usually first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain genes. Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism. Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Pseudohypoparathyroidism ? assistant Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). The symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). These symptoms are usually first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain genes. Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism. Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2
What is (are) Aquagenic pruritus ?
Aquagenic pruritus is a condition in which contact with water of any temperature causes intense itching without any visible skin changes. The symptoms may begin immediately after contact with water and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. The symptoms of the condition are similar to those seen in patients with other conditions; therefore, a thorough evaluation should be performed to rule out other more serious conditions. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying success.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Aquagenic pruritus ? assistant Aquagenic pruritus is a condition in which contact with water of any temperature causes intense itching without any visible skin changes. The symptoms may begin immediately after contact with water and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. The symptoms of the condition are similar to those seen in patients with other conditions; therefore, a thorough evaluation should be performed to rule out other more serious conditions. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying success.
What are the symptoms of Aquagenic pruritus ?
What symptoms are observed in patients who have aquagenic pruritus? Aquagenic pruritus causes intense itching in the parts of the body that come in contact with water without an associated rash. The head, palms, soles, and mucosa are usually not affected.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Aquagenic pruritus ? assistant What symptoms are observed in patients who have aquagenic pruritus? Aquagenic pruritus causes intense itching in the parts of the body that come in contact with water without an associated rash. The head, palms, soles, and mucosa are usually not affected.
What causes Aquagenic pruritus ?
What causes aquagenic pruritus? The exact cause of aquagenic pruritus is unknown, but increased mast cell degranulation (release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system), increased circulating histamine, release of acetylcholine (a chemical in the body which sends signals from nerves to muscles and between nerves in the brain), and increased skin fibrinolytic activity (activity that controls clot size by promoting the breakdown of clots) have all been named as possible causes of the condition. In some cases, it appears to be a symptom of polycythemia vera.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Aquagenic pruritus ? assistant What causes aquagenic pruritus? The exact cause of aquagenic pruritus is unknown, but increased mast cell degranulation (release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system), increased circulating histamine, release of acetylcholine (a chemical in the body which sends signals from nerves to muscles and between nerves in the brain), and increased skin fibrinolytic activity (activity that controls clot size by promoting the breakdown of clots) have all been named as possible causes of the condition. In some cases, it appears to be a symptom of polycythemia vera.
How to diagnose Aquagenic pruritus ?
How is aquagenic pruritus diagnosed? Criteria for diagnosis include : Severe itching, prickling, stinging, or burning that consistently develops after skin contact with water, regardless of water temperature or salinity; Lack of visible skin manifestations; Reaction within minutes of exposure and lasting anywhere between 10 minutes to 2 hours; Lack of a other skin disease, internal condition, or medication to account for the reaction; and Exclusion of all other physical urticarias, symptomatic dermographism, and polycythemia vera.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Aquagenic pruritus ? assistant How is aquagenic pruritus diagnosed? Criteria for diagnosis include : Severe itching, prickling, stinging, or burning that consistently develops after skin contact with water, regardless of water temperature or salinity; Lack of visible skin manifestations; Reaction within minutes of exposure and lasting anywhere between 10 minutes to 2 hours; Lack of a other skin disease, internal condition, or medication to account for the reaction; and Exclusion of all other physical urticarias, symptomatic dermographism, and polycythemia vera.
What are the treatments for Aquagenic pruritus ?
What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. Antihistamines are the mainstay of treatment. Other therapies that have been tried include adding adding sodium bicarbonate to bath water, topical capsaicin, selective serotonin reuptake inhibitors, UVB phototherapy, PUVA therapy, naltrexone, propranolol, and atenolol.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Aquagenic pruritus ? assistant What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. Antihistamines are the mainstay of treatment. Other therapies that have been tried include adding adding sodium bicarbonate to bath water, topical capsaicin, selective serotonin reuptake inhibitors, UVB phototherapy, PUVA therapy, naltrexone, propranolol, and atenolol.
What is (are) Costello syndrome ?
Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. Costello syndrome is caused by changes (mutations) in the HRAS gene. It is considered an autosomal dominant condition; however, almost all reported cases are the result of de novo gene mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Costello syndrome ? assistant Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. Costello syndrome is caused by changes (mutations) in the HRAS gene. It is considered an autosomal dominant condition; however, almost all reported cases are the result of de novo gene mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Costello syndrome ?
What are the signs and symptoms of Costello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Costello 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 enamel 90% Abnormality of the fingernails 90% Abnormality of the palate 90% Abnormality of the pulmonary valve 90% Acanthosis nigricans 90% Cutis laxa 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Hyperkeratosis 90% Lack of skin elasticity 90% Macrocephaly 90% Short neck 90% Short stature 90% Ventricular septal defect 90% Woolly hair 90% Abnormal dermatoglyphics 50% Abnormal tendon morphology 50% Abnormality of the mitral valve 50% Abnormality of the tongue 50% Cerebral cortical atrophy 50% Cognitive impairment 50% Cryptorchidism 50% Decreased corneal thickness 50% Epicanthus 50% Full cheeks 50% Hypertrophic cardiomyopathy 50% Hypoplastic toenails 50% Joint hypermobility 50% Polyhydramnios 50% Strabismus 50% Thick lower lip vermilion 50% Thickened nuchal skin fold 50% Ulnar deviation of finger 50% Verrucae 50% Coarse facial features 7.5% Feeding difficulties in infancy 7.5% Generalized hyperpigmentation 7.5% Large earlobe 7.5% Large face 7.5% Low-set, posteriorly rotated ears 7.5% Renal insufficiency 5% Achilles tendon contracture - Anteverted nares - Arnold-Chiari type I malformation - Arrhythmia - Atria septal defect - Autosomal dominant inheritance - Barrel-shaped chest - Bladder carcinoma - Bronchomalacia - Cerebral atrophy - Concave nail - Curly hair - Deep palmar crease - Deep plantar creases - Deep-set nails - Enlarged cerebellum - Failure to thrive - Fragile nails - High palate - Hoarse voice - Hydrocephalus - Hyperextensibility of the finger joints - Hyperpigmentation of the skin - Hypertelorism - Hypoglycemia - Intellectual disability - Limited elbow movement - Low-set ears - Macroglossia - Mitral valve prolapse - Nevus - Obstructive sleep apnea - Overgrowth - Pectus carinatum - Pneumothorax - Pointed chin - Poor suck - Posteriorly rotated ears - Premature birth - Ptosis - Pulmonic stenosis - Pyloric stenosis - Redundant neck skin - Respiratory failure - Rhabdomyosarcoma - Sparse hair - Sporadic - Sudden death - Talipes equinovarus - Thin nail - Tracheomalacia - Ventriculomegaly - Vestibular Schwannoma - Webbed neck - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Costello syndrome ? assistant What are the signs and symptoms of Costello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Costello 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 enamel 90% Abnormality of the fingernails 90% Abnormality of the palate 90% Abnormality of the pulmonary valve 90% Acanthosis nigricans 90% Cutis laxa 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Hyperkeratosis 90% Lack of skin elasticity 90% Macrocephaly 90% Short neck 90% Short stature 90% Ventricular septal defect 90% Woolly hair 90% Abnormal dermatoglyphics 50% Abnormal tendon morphology 50% Abnormality of the mitral valve 50% Abnormality of the tongue 50% Cerebral cortical atrophy 50% Cognitive impairment 50% Cryptorchidism 50% Decreased corneal thickness 50% Epicanthus 50% Full cheeks 50% Hypertrophic cardiomyopathy 50% Hypoplastic toenails 50% Joint hypermobility 50% Polyhydramnios 50% Strabismus 50% Thick lower lip vermilion 50% Thickened nuchal skin fold 50% Ulnar deviation of finger 50% Verrucae 50% Coarse facial features 7.5% Feeding difficulties in infancy 7.5% Generalized hyperpigmentation 7.5% Large earlobe 7.5% Large face 7.5% Low-set, posteriorly rotated ears 7.5% Renal insufficiency 5% Achilles tendon contracture - Anteverted nares - Arnold-Chiari type I malformation - Arrhythmia - Atria septal defect - Autosomal dominant inheritance - Barrel-shaped chest - Bladder carcinoma - Bronchomalacia - Cerebral atrophy - Concave nail - Curly hair - Deep palmar crease - Deep plantar creases - Deep-set nails - Enlarged cerebellum - Failure to thrive - Fragile nails - High palate - Hoarse voice - Hydrocephalus - Hyperextensibility of the finger joints - Hyperpigmentation of the skin - Hypertelorism - Hypoglycemia - Intellectual disability - Limited elbow movement - Low-set ears - Macroglossia - Mitral valve prolapse - Nevus - Obstructive sleep apnea - Overgrowth - Pectus carinatum - Pneumothorax - Pointed chin - Poor suck - Posteriorly rotated ears - Premature birth - Ptosis - Pulmonic stenosis - Pyloric stenosis - Redundant neck skin - Respiratory failure - Rhabdomyosarcoma - Sparse hair - Sporadic - Sudden death - Talipes equinovarus - Thin nail - Tracheomalacia - Ventriculomegaly - Vestibular Schwannoma - Webbed neck - 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.
What are the symptoms of Sillence syndrome ?
What are the signs and symptoms of Sillence syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sillence 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 thumb phalanx 90% Camptodactyly of finger 90% Scoliosis 90% Tall stature 90% Abnormality of pelvic girdle bone morphology 50% Anonychia 50% Epicanthus 50% Single transverse palmar crease 50% Narrow face 7.5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Bilateral single transverse palmar creases - Broad foot - Chess-pawn distal phalanges - Distal symphalangism (hands) - Flat acetabular roof - Pes cavus - Short 1st metacarpal - Thoracolumbar scoliosis - Type A1 brachydactyly - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Sillence syndrome ? assistant What are the signs and symptoms of Sillence syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sillence 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 thumb phalanx 90% Camptodactyly of finger 90% Scoliosis 90% Tall stature 90% Abnormality of pelvic girdle bone morphology 50% Anonychia 50% Epicanthus 50% Single transverse palmar crease 50% Narrow face 7.5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Bilateral single transverse palmar creases - Broad foot - Chess-pawn distal phalanges - Distal symphalangism (hands) - Flat acetabular roof - Pes cavus - Short 1st metacarpal - Thoracolumbar scoliosis - Type A1 brachydactyly - 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 Bardet-Biedl syndrome 11 ?
What are the signs and symptoms of Bardet-Biedl syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 11. 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 kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Bardet-Biedl syndrome 11 ? assistant What are the signs and symptoms of Bardet-Biedl syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 11. 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 kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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) Osteopetrosis autosomal recessive 5 ?
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Osteopetrosis autosomal recessive 5 ? assistant Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
What are the symptoms of Osteopetrosis autosomal recessive 5 ?
What are the signs and symptoms of Osteopetrosis autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 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) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Decreased osteoclast count - Hydrocephalus - Osteopetrosis - Stillbirth - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Osteopetrosis autosomal recessive 5 ? assistant What are the signs and symptoms of Osteopetrosis autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 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) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Decreased osteoclast count - Hydrocephalus - Osteopetrosis - Stillbirth - 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 Loeys-Dietz syndrome type 4 ?
What are the signs and symptoms of Loeys-Dietz syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 4. 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) Bicuspid aortic valve 5% Emphysema 5% Hypertelorism 5% Pneumothorax 5% Spondylolisthesis 5% Talipes equinovarus 5% Abnormality of the sternum - Aortic dissection - Arachnodactyly - Arterial tortuosity - Autosomal dominant inheritance - Bruising susceptibility - Dural ectasia - High palate - Inguinal hernia - Joint hyperflexibility - Mitral valve prolapse - Pes planus - Retrognathia - Scoliosis - Tall stature - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Loeys-Dietz syndrome type 4 ? assistant What are the signs and symptoms of Loeys-Dietz syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 4. 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) Bicuspid aortic valve 5% Emphysema 5% Hypertelorism 5% Pneumothorax 5% Spondylolisthesis 5% Talipes equinovarus 5% Abnormality of the sternum - Aortic dissection - Arachnodactyly - Arterial tortuosity - Autosomal dominant inheritance - Bruising susceptibility - Dural ectasia - High palate - Inguinal hernia - Joint hyperflexibility - Mitral valve prolapse - Pes planus - Retrognathia - Scoliosis - Tall stature - 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) Fine-Lubinsky syndrome ?
Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Fine-Lubinsky syndrome ? assistant Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.
What are the symptoms of Fine-Lubinsky syndrome ?
What are the signs and symptoms of Fine-Lubinsky syndrome? The signs and symptoms known to occur in people with Fine-Lubinsky syndrome (FLS) are based on reports of the few people who have been diagnosed and described in the medical literature. Numerous features have been reported and many of them vary among affected people. The key signs for diagnosis may include: non-synostotic brachycephaly or plagiocephaly (a deformity of the skull that is not due to bone fusion) structural brain anomalies abnormal electroencephalogram (EEG) intellectual disability deafness ocular (eye) abnormalities (cataracts or glaucoma) distinctive facial features (including a high/wide forehead; shallow eye orbits; a flat/round face; low-set, posteriorly-rotated ears; and an abnormally small mouth) body asymmetry, which may be present at birth (congenital) The Human Phenotype Ontology provides the following list of signs and symptoms for Fine-Lubinsky 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 eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Camptodactyly of finger 90% Cognitive impairment 90% Malar flattening 90% Muscular hypotonia 90% Plagiocephaly 90% Rocker bottom foot 90% Scoliosis 90% Sensorineural hearing impairment 90% Short stature 90% Tapered finger 90% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the corpus callosum 50% Asymmetry of the thorax 50% Atresia of the external auditory canal 50% Brachydactyly syndrome 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Depressed nasal bridge 50% Facial asymmetry 50% Glaucoma 50% High forehead 50% Hypertelorism 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Pectus excavatum 50% Seizures 50% Short nose 50% Short toe 50% Thin vermilion border 50% Ventriculomegaly 50% Finger syndactyly 7.5% Visual impairment 7.5% Hypoplasia of the corpus callosum 5% Long eyelashes 5% Megalocornea 5% Microtia 5% Shawl scrotum 5% Absent axillary hair - Brachycephaly - Breast hypoplasia - Camptodactyly - Cerebral atrophy - Flat face - Growth delay - Hearing impairment - Intellectual disability - Low-set ears - Pectus excavatum of inferior sternum - Posteriorly rotated ears - Scrotal hypoplasia - Shallow orbits - Sporadic - Superior pectus carinatum - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Fine-Lubinsky syndrome ? assistant What are the signs and symptoms of Fine-Lubinsky syndrome? The signs and symptoms known to occur in people with Fine-Lubinsky syndrome (FLS) are based on reports of the few people who have been diagnosed and described in the medical literature. Numerous features have been reported and many of them vary among affected people. The key signs for diagnosis may include: non-synostotic brachycephaly or plagiocephaly (a deformity of the skull that is not due to bone fusion) structural brain anomalies abnormal electroencephalogram (EEG) intellectual disability deafness ocular (eye) abnormalities (cataracts or glaucoma) distinctive facial features (including a high/wide forehead; shallow eye orbits; a flat/round face; low-set, posteriorly-rotated ears; and an abnormally small mouth) body asymmetry, which may be present at birth (congenital) The Human Phenotype Ontology provides the following list of signs and symptoms for Fine-Lubinsky 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 eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Camptodactyly of finger 90% Cognitive impairment 90% Malar flattening 90% Muscular hypotonia 90% Plagiocephaly 90% Rocker bottom foot 90% Scoliosis 90% Sensorineural hearing impairment 90% Short stature 90% Tapered finger 90% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the corpus callosum 50% Asymmetry of the thorax 50% Atresia of the external auditory canal 50% Brachydactyly syndrome 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Depressed nasal bridge 50% Facial asymmetry 50% Glaucoma 50% High forehead 50% Hypertelorism 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Pectus excavatum 50% Seizures 50% Short nose 50% Short toe 50% Thin vermilion border 50% Ventriculomegaly 50% Finger syndactyly 7.5% Visual impairment 7.5% Hypoplasia of the corpus callosum 5% Long eyelashes 5% Megalocornea 5% Microtia 5% Shawl scrotum 5% Absent axillary hair - Brachycephaly - Breast hypoplasia - Camptodactyly - Cerebral atrophy - Flat face - Growth delay - Hearing impairment - Intellectual disability - Low-set ears - Pectus excavatum of inferior sternum - Posteriorly rotated ears - Scrotal hypoplasia - Shallow orbits - Sporadic - Superior pectus carinatum - 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 Fine-Lubinsky syndrome ?
What causes Fine-Lubinsky syndrome? The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional reports are needed to identify a possible genetic cause of FLS. While karyotypes (pictures of chromosomes) were reportedly normal in affected people, the presence of a very small chromosomal rearrangement (too small to detect with a karyotype) as a possible cause for FLS has not been ruled out.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Fine-Lubinsky syndrome ? assistant What causes Fine-Lubinsky syndrome? The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional reports are needed to identify a possible genetic cause of FLS. While karyotypes (pictures of chromosomes) were reportedly normal in affected people, the presence of a very small chromosomal rearrangement (too small to detect with a karyotype) as a possible cause for FLS has not been ruled out.
Is Fine-Lubinsky syndrome inherited ?
How is Fine-Lubinsky syndrome inherited? Almost all people reported to have FineLubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance. Additional reports are needed to identify a possible genetic cause for the condition. Parents of a child with FLS should be aware that if the condition is inherited in an autosomal recessive manner, each of their children has a 25% (1 in 4) risk to be affected. Although karyotypes (pictures of chromosomes) have been reported as normal in affected people, the presence of a very small chromosomal rearrangement has not been excluded as a possible cause of FLS.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Fine-Lubinsky syndrome inherited ? assistant How is Fine-Lubinsky syndrome inherited? Almost all people reported to have FineLubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance. Additional reports are needed to identify a possible genetic cause for the condition. Parents of a child with FLS should be aware that if the condition is inherited in an autosomal recessive manner, each of their children has a 25% (1 in 4) risk to be affected. Although karyotypes (pictures of chromosomes) have been reported as normal in affected people, the presence of a very small chromosomal rearrangement has not been excluded as a possible cause of FLS.
How to diagnose Fine-Lubinsky syndrome ?
How is Fine-Lubinsky syndrome diagnosed? In 2009, Corona-Rivera et. al reviewed the signs and symptoms reported in people diagnosed with Fine-Lubinsky syndrome (FLS). They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the head); structural brain anomalies; abnormal EEG; intellectual disability; deafness; ocular (eye) abnormalities including cataracts or glaucoma; distinctive facial features involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia (small mouth); and body asymmetry.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Fine-Lubinsky syndrome ? assistant How is Fine-Lubinsky syndrome diagnosed? In 2009, Corona-Rivera et. al reviewed the signs and symptoms reported in people diagnosed with Fine-Lubinsky syndrome (FLS). They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the head); structural brain anomalies; abnormal EEG; intellectual disability; deafness; ocular (eye) abnormalities including cataracts or glaucoma; distinctive facial features involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia (small mouth); and body asymmetry.
What is (are) Lynch syndrome ?
Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Lynch syndrome ? assistant Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene.
What are the symptoms of Lynch syndrome ?
What are the signs and symptoms of Lynch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lynch 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) Anemia 90% Constipation 90% Gastrointestinal hemorrhage 90% Intestinal obstruction 90% Malabsorption 90% Neoplasm of the colon 90% Neoplasm of the rectum 90% Weight loss 90% Biliary tract neoplasm 50% Neoplasm of the nervous system 50% Neoplasm of the pancreas 50% Neoplasm of the small intestine 50% Neoplasm of the stomach 50% Ovarian neoplasm 50% Renal neoplasm 50% Uterine neoplasm 50% Ascites 7.5% Hepatomegaly 7.5% Nausea and vomiting 7.5% Recurrent urinary tract infections 7.5% Autosomal dominant inheritance - Colon cancer - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Lynch syndrome ? assistant What are the signs and symptoms of Lynch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lynch 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) Anemia 90% Constipation 90% Gastrointestinal hemorrhage 90% Intestinal obstruction 90% Malabsorption 90% Neoplasm of the colon 90% Neoplasm of the rectum 90% Weight loss 90% Biliary tract neoplasm 50% Neoplasm of the nervous system 50% Neoplasm of the pancreas 50% Neoplasm of the small intestine 50% Neoplasm of the stomach 50% Ovarian neoplasm 50% Renal neoplasm 50% Uterine neoplasm 50% Ascites 7.5% Hepatomegaly 7.5% Nausea and vomiting 7.5% Recurrent urinary tract infections 7.5% Autosomal dominant inheritance - Colon cancer - 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 Lynch syndrome ?
What causes Lynch syndrome? Lynch syndrome is caused by mutations in at least 5 genes (MLH1, MSH2, MSH6, PMS2 or EPCAM). All of these genes are involved in the repair of mistakes made when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Lynch syndrome ? assistant What causes Lynch syndrome? Lynch syndrome is caused by mutations in at least 5 genes (MLH1, MSH2, MSH6, PMS2 or EPCAM). All of these genes are involved in the repair of mistakes made when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.
Is Lynch syndrome inherited ?
Is Lynch syndrome an inherited condition? Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Lynch syndrome inherited ? assistant Is Lynch syndrome an inherited condition? Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.
How to diagnose Lynch syndrome ?
How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Lynch syndrome ? assistant How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here.
What is (are) Multicentric reticulohistiocytosis ?
Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, heart, lung, kidney, liver, gastrointestinal tract). In the majority of cases, the cause of multicentric reticulohistiocytosis is unknown; however, it has been associated with an underlying cancer in about one fourth of cases, suggesting that it may be a paraneoplastic syndrome.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Multicentric reticulohistiocytosis ? assistant Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, heart, lung, kidney, liver, gastrointestinal tract). In the majority of cases, the cause of multicentric reticulohistiocytosis is unknown; however, it has been associated with an underlying cancer in about one fourth of cases, suggesting that it may be a paraneoplastic syndrome.
What are the symptoms of Multicentric reticulohistiocytosis ?
What are the signs and symptoms of Multicentric reticulohistiocytosis? The main symptoms of multicentric reticulohistiocytosis are arthritis and red to purple skin nodules varying in size from 1 to 10 mm. The nodules can be found on any part of the body but tend to concentrate on the face and hands and decrease in number from head to toe. The arthritis is most often symmetrical and polyarticular (affecting many joints). Unlike adult rheumatoid arthritis, it does not spare the joints closest to the fingertips. It can be severely destructive, and in one third of cases it progresses to arthritis multilans. Further history reveals that approximately one third of patients complain of symptoms such as fever, weight loss, and malaise; less often, pericarditis and myositis are present. The clinical presentation of multicentric reticulohistiocytosis is insidious in onset and begins with arthritic complaints in approximately two thirds of patients. It is potentially one of the most rapidly destructive forms of arthritis. Joint involvement remits and relapses, gradually worsening into a debilitating and permanent arthritis multilans. The severity of the damage has been reported to be related to the age of onset; therefore, the earlier one has symptoms, the more severe the symptoms tend to be. Like the associated arthritis, skin lesions tend to wax and wane until the disease spontaneously resolves, but may leave permanent disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric reticulohistiocytosis. 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 oral cavity 90% Abnormality of the skin 90% Arthritis 90% Abnormality of temperature regulation 7.5% Decreased body weight 7.5% Muscle weakness 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Multicentric reticulohistiocytosis ? assistant What are the signs and symptoms of Multicentric reticulohistiocytosis? The main symptoms of multicentric reticulohistiocytosis are arthritis and red to purple skin nodules varying in size from 1 to 10 mm. The nodules can be found on any part of the body but tend to concentrate on the face and hands and decrease in number from head to toe. The arthritis is most often symmetrical and polyarticular (affecting many joints). Unlike adult rheumatoid arthritis, it does not spare the joints closest to the fingertips. It can be severely destructive, and in one third of cases it progresses to arthritis multilans. Further history reveals that approximately one third of patients complain of symptoms such as fever, weight loss, and malaise; less often, pericarditis and myositis are present. The clinical presentation of multicentric reticulohistiocytosis is insidious in onset and begins with arthritic complaints in approximately two thirds of patients. It is potentially one of the most rapidly destructive forms of arthritis. Joint involvement remits and relapses, gradually worsening into a debilitating and permanent arthritis multilans. The severity of the damage has been reported to be related to the age of onset; therefore, the earlier one has symptoms, the more severe the symptoms tend to be. Like the associated arthritis, skin lesions tend to wax and wane until the disease spontaneously resolves, but may leave permanent disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric reticulohistiocytosis. 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 oral cavity 90% Abnormality of the skin 90% Arthritis 90% Abnormality of temperature regulation 7.5% Decreased body weight 7.5% Muscle weakness 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 treatments for Multicentric reticulohistiocytosis ?
How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many different drugs have been used. For instance, therapy with non-steroidal anti-inflammatory agents (e.g., aspirin or ibuprofen) may help the arthritis. Systemic corticosteroids and/or cytotoxic agents, particularly cyclophosphamide, chlorambucil, or methotrexate, may affect the inflammatory response, prevent further joint destruction, and cause skin lesions to regress. Antimalarials (e.g., hydroxychloroquine and mefloquine) have also been used. Alendronate and other bisphosphonates have been reported to be effective in at least one patient and etanercept and infliximab have been effective in some.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Multicentric reticulohistiocytosis ? assistant How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many different drugs have been used. For instance, therapy with non-steroidal anti-inflammatory agents (e.g., aspirin or ibuprofen) may help the arthritis. Systemic corticosteroids and/or cytotoxic agents, particularly cyclophosphamide, chlorambucil, or methotrexate, may affect the inflammatory response, prevent further joint destruction, and cause skin lesions to regress. Antimalarials (e.g., hydroxychloroquine and mefloquine) have also been used. Alendronate and other bisphosphonates have been reported to be effective in at least one patient and etanercept and infliximab have been effective in some.
What is (are) Portal hypertension ?
Portal hypertension is abnormally high blood pressure in branches of the portal vein, the large vein that brings blood from the intestine to the liver. Portal hypertension itself does not cause symptoms, but complications from the condition can lead to an enlarged abdomen, abdominal discomfort, confusion, drowsiness and internal bleeding. It may be caused by a variety of conditions, but cirrhosis is the most common cause in Western countries. Treatment is generally directed toward the cause of the condition, although emergency treatment is sometimes needed for serious complications.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Portal hypertension ? assistant Portal hypertension is abnormally high blood pressure in branches of the portal vein, the large vein that brings blood from the intestine to the liver. Portal hypertension itself does not cause symptoms, but complications from the condition can lead to an enlarged abdomen, abdominal discomfort, confusion, drowsiness and internal bleeding. It may be caused by a variety of conditions, but cirrhosis is the most common cause in Western countries. Treatment is generally directed toward the cause of the condition, although emergency treatment is sometimes needed for serious complications.
What is (are) ADNP syndrome ?
ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.[1] ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.[1]
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) ADNP syndrome ? assistant ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.[1] ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.[1]
What are the symptoms of ADNP syndrome ?
What are the signs and symptoms of ADNP syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADNP 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 cardiovascular system morphology 5% Seizures 5% Autistic behavior - Cleft eyelid - Feeding difficulties - Hyperactivity - Hypermetropia - Intellectual disability - Joint laxity - Language impairment - Muscular hypotonia - Obesity - Obsessive-compulsive behavior - Prominent forehead - Ptosis - Recurrent infections - Short nose - Short stature - Small hand - Smooth philtrum - Stereotypic behavior - Strabismus - Visual impairment - Wide nasal bridge - 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 ADNP syndrome ? assistant What are the signs and symptoms of ADNP syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADNP 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 cardiovascular system morphology 5% Seizures 5% Autistic behavior - Cleft eyelid - Feeding difficulties - Hyperactivity - Hypermetropia - Intellectual disability - Joint laxity - Language impairment - Muscular hypotonia - Obesity - Obsessive-compulsive behavior - Prominent forehead - Ptosis - Recurrent infections - Short nose - Short stature - Small hand - Smooth philtrum - Stereotypic behavior - Strabismus - Visual impairment - Wide nasal bridge - 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) Colpocephaly ?
Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Colpocephaly ? assistant Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.