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What is (are) Noonan syndrome ?
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Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Noonan syndrome ? assistant Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
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What are the symptoms of Noonan syndrome ?
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What are the signs and symptoms of Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan 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 helix 90% Abnormality of the nipple 90% Abnormality of the palate 90% Abnormality of the pulmonary artery 90% Abnormality of the pulmonary valve 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cystic hygroma 90% Enlarged thorax 90% High forehead 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Muscle weakness 90% Neurological speech impairment 90% Pectus carinatum 90% Pectus excavatum 90% Proptosis 90% Ptosis 90% Short stature 90% Thick lower lip vermilion 90% Thickened nuchal skin fold 90% Triangular face 90% Webbed neck 90% Abnormal dermatoglyphics 50% Abnormality of coagulation 50% Abnormality of the spleen 50% Abnormality of thrombocytes 50% Arrhythmia 50% Coarse hair 50% Cryptorchidism 50% Delayed skeletal maturation 50% Feeding difficulties in infancy 50% Hepatomegaly 50% Low posterior hairline 50% Muscular hypotonia 50% Scoliosis 50% Strabismus 50% Intellectual disability 25% Abnormal hair quantity 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Hypogonadism 7.5% Lymphedema 7.5% Melanocytic nevus 7.5% Nystagmus 7.5% Radioulnar synostosis 7.5% Sensorineural hearing impairment 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Clinodactyly - Coarctation of aorta - Cubitus valgus - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertrophic cardiomyopathy - Kyphoscoliosis - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Shield chest - Short neck - Superior pectus carinatum - Synovitis - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Noonan syndrome ? assistant What are the signs and symptoms of Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan 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 helix 90% Abnormality of the nipple 90% Abnormality of the palate 90% Abnormality of the pulmonary artery 90% Abnormality of the pulmonary valve 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cystic hygroma 90% Enlarged thorax 90% High forehead 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Muscle weakness 90% Neurological speech impairment 90% Pectus carinatum 90% Pectus excavatum 90% Proptosis 90% Ptosis 90% Short stature 90% Thick lower lip vermilion 90% Thickened nuchal skin fold 90% Triangular face 90% Webbed neck 90% Abnormal dermatoglyphics 50% Abnormality of coagulation 50% Abnormality of the spleen 50% Abnormality of thrombocytes 50% Arrhythmia 50% Coarse hair 50% Cryptorchidism 50% Delayed skeletal maturation 50% Feeding difficulties in infancy 50% Hepatomegaly 50% Low posterior hairline 50% Muscular hypotonia 50% Scoliosis 50% Strabismus 50% Intellectual disability 25% Abnormal hair quantity 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Hypogonadism 7.5% Lymphedema 7.5% Melanocytic nevus 7.5% Nystagmus 7.5% Radioulnar synostosis 7.5% Sensorineural hearing impairment 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Clinodactyly - Coarctation of aorta - Cubitus valgus - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertrophic cardiomyopathy - Kyphoscoliosis - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Shield chest - Short neck - Superior pectus carinatum - Synovitis - 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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Is Noonan syndrome inherited ?
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How is Noonan syndrome inherited? Noonan syndrome is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause the condition. Each child of a person with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition. In some cases, the condition is inherited from an affected parent. Because the features of the condition can vary and may be very subtle, many affected adults are diagnosed only after the birth of a more obviously affected infant. In other cases, the condition is caused by a new mutation occurring for the first time in the affected person.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Noonan syndrome inherited ? assistant How is Noonan syndrome inherited? Noonan syndrome is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause the condition. Each child of a person with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition. In some cases, the condition is inherited from an affected parent. Because the features of the condition can vary and may be very subtle, many affected adults are diagnosed only after the birth of a more obviously affected infant. In other cases, the condition is caused by a new mutation occurring for the first time in the affected person.
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What are the treatments for Noonan syndrome ?
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How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Noonan syndrome ? assistant How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
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What is (are) Prolactinoma, familial ?
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A prolactinoma is a tumor of the pituitary gland, which controls production of many hormones. A prolactinoma causes increased levels of the hormone prolactin. The symptoms of prolactinoma may include unusual milk production (galactorrhea) or no menstrual cycles (amenorrhea) in women or decreased sex drive in men. Most prolactinomas occur by chance (sporadically); in a small number of cases, prolactinoma may be associated with an inherited condition such as Multiple Endocrine Neoplasia type 1 (MEN1) or other genetic factor.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Prolactinoma, familial ? assistant A prolactinoma is a tumor of the pituitary gland, which controls production of many hormones. A prolactinoma causes increased levels of the hormone prolactin. The symptoms of prolactinoma may include unusual milk production (galactorrhea) or no menstrual cycles (amenorrhea) in women or decreased sex drive in men. Most prolactinomas occur by chance (sporadically); in a small number of cases, prolactinoma may be associated with an inherited condition such as Multiple Endocrine Neoplasia type 1 (MEN1) or other genetic factor.
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What is (are) Hypocomplementemic urticarial vasculitis syndrome ?
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Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. Patients with this condition are likely to have systemic involvement, including angioedema, arthralgias, pulmonary disease, abdominal or chest pain, fever, renal disease, and episcleritis. Hypocomplementemic urticarial vasculitis is thought be an autoimmune response involving a specific region of complement 1 (C1). It can present as or precede a syndrome that includes obstructive pulmonary disease , uveitis, systemic lupus erythematous (SLE), Sjgren's syndrome, or cryoglobulinemia (which is closely linked with hepatitis B or hepatitis C virus infection). Some cases of hypocomplementemic urticarial vasculitis respond to therapies commonly used for the treatment of SLE, including low-dose prednisone, hydroxychloroquine, dapsone, or other immunomodulatory agents.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hypocomplementemic urticarial vasculitis syndrome ? assistant Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. Patients with this condition are likely to have systemic involvement, including angioedema, arthralgias, pulmonary disease, abdominal or chest pain, fever, renal disease, and episcleritis. Hypocomplementemic urticarial vasculitis is thought be an autoimmune response involving a specific region of complement 1 (C1). It can present as or precede a syndrome that includes obstructive pulmonary disease , uveitis, systemic lupus erythematous (SLE), Sjgren's syndrome, or cryoglobulinemia (which is closely linked with hepatitis B or hepatitis C virus infection). Some cases of hypocomplementemic urticarial vasculitis respond to therapies commonly used for the treatment of SLE, including low-dose prednisone, hydroxychloroquine, dapsone, or other immunomodulatory agents.
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How to diagnose Hypocomplementemic urticarial vasculitis syndrome ?
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How is hypocomplementemic urticarial vasculitis (HUV) diagnosed? What kind of tests are required? A diagnosis of hypocomplementemic urticarial vasculitis (HUV) syndrome is supported by findings from varied tests, such as skin biopsy, blood tests, physical and eye examinations, and urinalysis and kidney imaging studies (when glomerulonephritis is suspected). People with HUV syndrome have hives (urticaria) for at least six months and low levels of proteins (complement) in the blood. Complement levels can be determined through a blood test. Click here to visit the American Association for Clinical Chemistry's Web site Lab Tests Online to learn more about this test. In addition to these major criteria, people with HUV syndrome must also have at least two of the following minor criteria: Inflammation in the small veins of the dermis (diagnosed by biopsy) Joint pain or arthritis Mild glomerulonephritis Inflammation in the eye (uvea or episclera) Recurrent abdominal pain The presence of anti-C1q antibodies (this test is not widely available) Some people have urticarial vasculitis and low complement levels (hypocomplementemia), but do not meet diagnostic criteria for HUV syndrome. These individuals may be diagnosed as having HUV (where symptoms are limited to the skin), versus HUV syndrome. Differential diagnoses for HUV syndrome include, Schnitzler's syndrome, Cogan's syndrome, and Muckle-Wells syndrome.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Hypocomplementemic urticarial vasculitis syndrome ? assistant How is hypocomplementemic urticarial vasculitis (HUV) diagnosed? What kind of tests are required? A diagnosis of hypocomplementemic urticarial vasculitis (HUV) syndrome is supported by findings from varied tests, such as skin biopsy, blood tests, physical and eye examinations, and urinalysis and kidney imaging studies (when glomerulonephritis is suspected). People with HUV syndrome have hives (urticaria) for at least six months and low levels of proteins (complement) in the blood. Complement levels can be determined through a blood test. Click here to visit the American Association for Clinical Chemistry's Web site Lab Tests Online to learn more about this test. In addition to these major criteria, people with HUV syndrome must also have at least two of the following minor criteria: Inflammation in the small veins of the dermis (diagnosed by biopsy) Joint pain or arthritis Mild glomerulonephritis Inflammation in the eye (uvea or episclera) Recurrent abdominal pain The presence of anti-C1q antibodies (this test is not widely available) Some people have urticarial vasculitis and low complement levels (hypocomplementemia), but do not meet diagnostic criteria for HUV syndrome. These individuals may be diagnosed as having HUV (where symptoms are limited to the skin), versus HUV syndrome. Differential diagnoses for HUV syndrome include, Schnitzler's syndrome, Cogan's syndrome, and Muckle-Wells syndrome.
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What are the symptoms of Boomerang dysplasia ?
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What are the signs and symptoms of Boomerang dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Boomerang dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral ossification 90% Abnormality of bone mineral density 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the tibia 90% Limb undergrowth 90% Narrow chest 90% Abnormality of the femur 50% Abnormality of the humerus 50% Abnormality of the metacarpal bones 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Finger syndactyly 50% Hydrops fetalis 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the ulna 7.5% Absent radius - Autosomal dominant inheritance - Fibular aplasia - Hypoplastic iliac body - Hypoplastic nasal septum - Neonatal death - Severe short stature - Underdeveloped nasal alae - 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.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Boomerang dysplasia ? assistant What are the signs and symptoms of Boomerang dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Boomerang dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral ossification 90% Abnormality of bone mineral density 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the tibia 90% Limb undergrowth 90% Narrow chest 90% Abnormality of the femur 50% Abnormality of the humerus 50% Abnormality of the metacarpal bones 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Finger syndactyly 50% Hydrops fetalis 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the ulna 7.5% Absent radius - Autosomal dominant inheritance - Fibular aplasia - Hypoplastic iliac body - Hypoplastic nasal septum - Neonatal death - Severe short stature - Underdeveloped nasal alae - 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.
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What is (are) Mixed connective tissue disease ?
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Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresive drugs may help manage the symptoms.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Mixed connective tissue disease ? assistant Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresive drugs may help manage the symptoms.
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What are the symptoms of Mixed connective tissue disease ?
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What are the signs and symptoms of Mixed connective tissue disease? People with mixed connective tissue disease (MCTD) have symptoms that overlap with several connective tissue disorders, including systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis. A condition called Raynaud's phenomenon sometimes occurs months or years before other symptoms of MCTD develop. Most people with MCTD have pain in multiple joints, and/or inflammation of joints (arthritis). Muscle weakness, fevers, and fatigue are also common. Other signs and symptoms may include: Accumulation of fluid in the tissue of the hands that causes puffiness and swelling (edema) Skin findings including lupus-like rashes (including reddish brown patches), reddish patches over the knuckles, violet coloring of the eyelids, loss of hair (alopecia), and dilation of small blood vessels around the fingernails (periungual telangiectasia) Dysfunction of the esophagus (hypomotility) Abnormalities in lung function which may lead to breathing difficulties, and/or pulmonary hypertension Heart involvement (less common in MCTD than lung problems) including pericarditis, myocarditis, and aortic insufficiency Kidney disease Neurologic abnormalities (in about 10 percent of people with MCTD) such as organic brain syndrome; blood vessel narrowing causing "vascular" headaches; a mild form of meningitis; seizures; blockage of a cerebral vessel (cerebral thrombosis) or bleeding; and/or various sensory disturbances in multiple areas of the body (multiple peripheral neuropathies) Anemia and leukopenia (in 30 to 40 percent of cases) Lymphadenopathy, enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and/or intestinal involvement in some cases The Human Phenotype Ontology provides the following list of signs and symptoms for Mixed connective tissue 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 gastric mucosa 90% Acrocyanosis 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Myalgia 90% Nausea and vomiting 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Skin rash 90% Abnormality of temperature regulation 50% Abnormality of the pleura 50% Arthralgia 50% Behavioral abnormality 50% Joint swelling 50% Keratoconjunctivitis sicca 50% Myositis 50% Xerostomia 50% Abnormal tendon morphology 7.5% Abnormality of coagulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Gastrointestinal hemorrhage 7.5% Hemolytic anemia 7.5% Hepatomegaly 7.5% Leukopenia 7.5% Limitation of joint mobility 7.5% Mediastinal lymphadenopathy 7.5% Meningitis 7.5% Nephropathy 7.5% Osteolysis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Splenomegaly 7.5% Subcutaneous hemorrhage 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Mixed connective tissue disease ? assistant What are the signs and symptoms of Mixed connective tissue disease? People with mixed connective tissue disease (MCTD) have symptoms that overlap with several connective tissue disorders, including systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis. A condition called Raynaud's phenomenon sometimes occurs months or years before other symptoms of MCTD develop. Most people with MCTD have pain in multiple joints, and/or inflammation of joints (arthritis). Muscle weakness, fevers, and fatigue are also common. Other signs and symptoms may include: Accumulation of fluid in the tissue of the hands that causes puffiness and swelling (edema) Skin findings including lupus-like rashes (including reddish brown patches), reddish patches over the knuckles, violet coloring of the eyelids, loss of hair (alopecia), and dilation of small blood vessels around the fingernails (periungual telangiectasia) Dysfunction of the esophagus (hypomotility) Abnormalities in lung function which may lead to breathing difficulties, and/or pulmonary hypertension Heart involvement (less common in MCTD than lung problems) including pericarditis, myocarditis, and aortic insufficiency Kidney disease Neurologic abnormalities (in about 10 percent of people with MCTD) such as organic brain syndrome; blood vessel narrowing causing "vascular" headaches; a mild form of meningitis; seizures; blockage of a cerebral vessel (cerebral thrombosis) or bleeding; and/or various sensory disturbances in multiple areas of the body (multiple peripheral neuropathies) Anemia and leukopenia (in 30 to 40 percent of cases) Lymphadenopathy, enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and/or intestinal involvement in some cases The Human Phenotype Ontology provides the following list of signs and symptoms for Mixed connective tissue 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 gastric mucosa 90% Acrocyanosis 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Myalgia 90% Nausea and vomiting 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Skin rash 90% Abnormality of temperature regulation 50% Abnormality of the pleura 50% Arthralgia 50% Behavioral abnormality 50% Joint swelling 50% Keratoconjunctivitis sicca 50% Myositis 50% Xerostomia 50% Abnormal tendon morphology 7.5% Abnormality of coagulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Gastrointestinal hemorrhage 7.5% Hemolytic anemia 7.5% Hepatomegaly 7.5% Leukopenia 7.5% Limitation of joint mobility 7.5% Mediastinal lymphadenopathy 7.5% Meningitis 7.5% Nephropathy 7.5% Osteolysis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Splenomegaly 7.5% Subcutaneous hemorrhage 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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What causes Mixed connective tissue disease ?
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What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Mixed connective tissue disease ? assistant What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition.
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Is Mixed connective tissue disease inherited ?
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Is mixed connective tissue disease inherited? The role of genetics in the onset of mixed connective tissue disease (MCTD) is still unclear. Some people with MCTD have family members who are also affected by the condition. This suggests that in some cases, an inherited predisposition may contribute to the development of MCTD. People with an inherited or genetic predisposition have an increased risk of developing a certain condition due to their genes.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Mixed connective tissue disease inherited ? assistant Is mixed connective tissue disease inherited? The role of genetics in the onset of mixed connective tissue disease (MCTD) is still unclear. Some people with MCTD have family members who are also affected by the condition. This suggests that in some cases, an inherited predisposition may contribute to the development of MCTD. People with an inherited or genetic predisposition have an increased risk of developing a certain condition due to their genes.
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How to diagnose Mixed connective tissue disease ?
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How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Mixed connective tissue disease ? assistant How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.
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What are the treatments for Mixed connective tissue disease ?
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How might mixed connective tissue disease be treated? There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation and pain of the muscles or joints. Glucocorticoids may be recommended in certain situations, such as during disease flares or when complications arise (e.g., aseptic meningitis, myositis, pleurisy, pericarditis, and myocarditis). Some people with MCTD require long term use of immunosuppressant medications. Additional medications may be prescribed based on the signs and symptoms present in each person. For example, if a person with MCTD has developed symptoms similar to those of lupus, medications typically prescribed for people with lupus may be recommended. For additional information about the treatment of MCTD, visit the Mayo Foundation for Medical Education and Research Web site.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Mixed connective tissue disease ? assistant How might mixed connective tissue disease be treated? There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation and pain of the muscles or joints. Glucocorticoids may be recommended in certain situations, such as during disease flares or when complications arise (e.g., aseptic meningitis, myositis, pleurisy, pericarditis, and myocarditis). Some people with MCTD require long term use of immunosuppressant medications. Additional medications may be prescribed based on the signs and symptoms present in each person. For example, if a person with MCTD has developed symptoms similar to those of lupus, medications typically prescribed for people with lupus may be recommended. For additional information about the treatment of MCTD, visit the Mayo Foundation for Medical Education and Research Web site.
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What is (are) Chromosome 5q deletion ?
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Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. 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 5q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Chromosome 5q deletion ? assistant Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. 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 5q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
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What are the symptoms of Faciocardiorenal syndrome ?
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What are the signs and symptoms of Faciocardiorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciocardiorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal localization of kidney 90% Abnormality of the philtrum 90% Abnormality of the pinna 90% Cleft palate 90% Cognitive impairment 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Plagiocephaly 90% Reduced number of teeth 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the endocardium 50% Abnormality of the tricuspid valve 7.5% Narrow mouth 7.5% Autosomal recessive inheritance - Broad hallux - Cryptorchidism - Decreased muscle mass - Endocardial fibroelastosis - Horseshoe kidney - Hydroureter - Hypodontia - Hypoplastic philtrum - Inguinal hernia - Intellectual disability, progressive - Intellectual disability, severe - Malar flattening - Microtia - Nevus - Scoliosis - Small nail - Toe syndactyly - Waddling gait - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Faciocardiorenal syndrome ? assistant What are the signs and symptoms of Faciocardiorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciocardiorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal localization of kidney 90% Abnormality of the philtrum 90% Abnormality of the pinna 90% Cleft palate 90% Cognitive impairment 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Plagiocephaly 90% Reduced number of teeth 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the endocardium 50% Abnormality of the tricuspid valve 7.5% Narrow mouth 7.5% Autosomal recessive inheritance - Broad hallux - Cryptorchidism - Decreased muscle mass - Endocardial fibroelastosis - Horseshoe kidney - Hydroureter - Hypodontia - Hypoplastic philtrum - Inguinal hernia - Intellectual disability, progressive - Intellectual disability, severe - Malar flattening - Microtia - Nevus - Scoliosis - Small nail - Toe syndactyly - Waddling gait - 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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What is (are) Mal de debarquement ?
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Mal de debarquement syndrome is a balance disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/or bobbing, difficulty maintaining balance, anxiety, fatigue, unsteadiness, and difficulty concentrating. The symptoms may be last anywhere from a month to years. Symptoms may or may not go away with time; however, they may reoccur following another motion experience or during periods of stress or illness. Although there is no known cure for mal de debarquement syndrome, there is evidence that some patients have responded positively to antidepressants or anti-seizure medications. Customized vestibular therapy and exercise routines may also be effective.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Mal de debarquement ? assistant Mal de debarquement syndrome is a balance disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/or bobbing, difficulty maintaining balance, anxiety, fatigue, unsteadiness, and difficulty concentrating. The symptoms may be last anywhere from a month to years. Symptoms may or may not go away with time; however, they may reoccur following another motion experience or during periods of stress or illness. Although there is no known cure for mal de debarquement syndrome, there is evidence that some patients have responded positively to antidepressants or anti-seizure medications. Customized vestibular therapy and exercise routines may also be effective.
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What are the treatments for Mal de debarquement ?
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How might mal de debarquement syndrome be treated? Treatment options for mal de debarquement syndrome (MdDS) are limited. Most drugs that work for other forms of dizziness do not work for MdDS. On some cases, medications classified as vestibular suppressants, such as anti-depressants and anti-seizure medications, may be used. Customized vestibular therapy like optokinetic stimulation has been effective in some cases. In recent years, a renewed interest in understanding the underlying cause of MdDS has led to new treatment options, including repetitive cranial stimulation. More studies into these treatment options are needed.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Mal de debarquement ? assistant How might mal de debarquement syndrome be treated? Treatment options for mal de debarquement syndrome (MdDS) are limited. Most drugs that work for other forms of dizziness do not work for MdDS. On some cases, medications classified as vestibular suppressants, such as anti-depressants and anti-seizure medications, may be used. Customized vestibular therapy like optokinetic stimulation has been effective in some cases. In recent years, a renewed interest in understanding the underlying cause of MdDS has led to new treatment options, including repetitive cranial stimulation. More studies into these treatment options are needed.
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What is (are) Loeys-Dietz syndrome ?
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Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner with variable clinical expression. This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. The disease is caused by mutations in the TGFBR1, the TGFBR2, the SMAD3 or the TGFB2 genes. It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. Many specialists may be involved for the best managment of the patient.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Loeys-Dietz syndrome ? assistant Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner with variable clinical expression. This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. The disease is caused by mutations in the TGFBR1, the TGFBR2, the SMAD3 or the TGFB2 genes. It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. Many specialists may be involved for the best managment of the patient.
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What are the symptoms of Loeys-Dietz syndrome ?
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What are the signs and symptoms of Loeys-Dietz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz 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) Aneurysm 90% Aortic dissection 90% Arterial dissection 90% Dilatation of the ascending aorta 90% Patent ductus arteriosus 90% Pes planus 90% Uterine rupture 90% Arachnodactyly 50% Atypical scarring of skin 50% Blue sclerae 50% Camptodactyly of finger 50% Cleft palate 50% Disproportionate tall stature 50% Hypoplasia of the zygomatic bone 50% Scoliosis 50% Striae distensae 50% Abnormality of coagulation 7.5% Craniosynostosis 7.5% Joint dislocation 7.5% Joint hypermobility 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Sudden cardiac death 7.5% Thin 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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Answer the question truthfully, you are a medical professional.
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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 ? assistant What are the signs and symptoms of Loeys-Dietz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz 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) Aneurysm 90% Aortic dissection 90% Arterial dissection 90% Dilatation of the ascending aorta 90% Patent ductus arteriosus 90% Pes planus 90% Uterine rupture 90% Arachnodactyly 50% Atypical scarring of skin 50% Blue sclerae 50% Camptodactyly of finger 50% Cleft palate 50% Disproportionate tall stature 50% Hypoplasia of the zygomatic bone 50% Scoliosis 50% Striae distensae 50% Abnormality of coagulation 7.5% Craniosynostosis 7.5% Joint dislocation 7.5% Joint hypermobility 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Sudden cardiac death 7.5% Thin 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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What is (are) Cockayne syndrome ?
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Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Cockayne syndrome ? assistant Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.
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What are the symptoms of Cockayne syndrome ?
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What are the signs and symptoms of Cockayne syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the nose 90% Carious teeth 90% Cognitive impairment 90% Cutaneous photosensitivity 90% Deeply set eye 90% Hyperreflexia 90% Hypertonia 90% Incoordination 90% Macrotia 90% Microcephaly 90% Peripheral neuropathy 90% Prematurely aged appearance 90% Retinopathy 90% Sensorineural hearing impairment 90% Short stature 90% Abnormal hair quantity 50% Abnormality of the foot 50% Aplasia/Hypoplasia of the skin 50% Atypical scarring of skin 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Chorioretinal abnormality 50% Decreased nerve conduction velocity 50% Dental malocclusion 50% Disproportionate tall stature 50% EEG abnormality 50% Fine hair 50% Generalized hyperpigmentation 50% Hypertension 50% Kyphosis 50% Large hands 50% Limitation of joint mobility 50% Strabismus 50% Tremor 50% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Breast aplasia 7.5% Cataract 7.5% Cryptorchidism 7.5% Delayed eruption of teeth 7.5% Glomerulopathy 7.5% Hypertrophic cardiomyopathy 7.5% Nephrotic syndrome 7.5% Optic atrophy 7.5% Oral cleft 7.5% Platyspondyly 7.5% Seizures 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Cockayne syndrome ? assistant What are the signs and symptoms of Cockayne syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the nose 90% Carious teeth 90% Cognitive impairment 90% Cutaneous photosensitivity 90% Deeply set eye 90% Hyperreflexia 90% Hypertonia 90% Incoordination 90% Macrotia 90% Microcephaly 90% Peripheral neuropathy 90% Prematurely aged appearance 90% Retinopathy 90% Sensorineural hearing impairment 90% Short stature 90% Abnormal hair quantity 50% Abnormality of the foot 50% Aplasia/Hypoplasia of the skin 50% Atypical scarring of skin 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Chorioretinal abnormality 50% Decreased nerve conduction velocity 50% Dental malocclusion 50% Disproportionate tall stature 50% EEG abnormality 50% Fine hair 50% Generalized hyperpigmentation 50% Hypertension 50% Kyphosis 50% Large hands 50% Limitation of joint mobility 50% Strabismus 50% Tremor 50% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Breast aplasia 7.5% Cataract 7.5% Cryptorchidism 7.5% Delayed eruption of teeth 7.5% Glomerulopathy 7.5% Hypertrophic cardiomyopathy 7.5% Nephrotic syndrome 7.5% Optic atrophy 7.5% Oral cleft 7.5% Platyspondyly 7.5% Seizures 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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What is (are) Trisomy 18 ?
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Trisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. Trisomy 18 is a life-threatening condition; many affected people die before birth or within the first month of life. Some children have survived to their teenage years, but with serious medical and developmental problems. Most cases are not inherited and occur sporadically (by chance).
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Trisomy 18 ? assistant Trisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. Trisomy 18 is a life-threatening condition; many affected people die before birth or within the first month of life. Some children have survived to their teenage years, but with serious medical and developmental problems. Most cases are not inherited and occur sporadically (by chance).
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What are the symptoms of Trisomy 18 ?
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What are the signs and symptoms of Trisomy 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Trisomy 18. 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% Atria septal defect 90% Broad forehead 90% Camptodactyly of finger 90% Cognitive impairment 90% Cryptorchidism 90% Decreased body weight 90% Deviation of finger 90% Dolichocephaly 90% High forehead 90% Hypertelorism 90% Hypertonia 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Narrow face 90% Narrow mouth 90% Omphalocele 90% Pointed helix 90% Prominent occiput 90% Short nose 90% Short stature 90% Triangular face 90% Underdeveloped supraorbital ridges 90% Ventricular septal defect 90% Abnormality of female internal genitalia 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the hip bone 50% Abnormality of the toenails 50% Abnormality of the upper urinary tract 50% Blepharophimosis 50% Choanal atresia 50% Cleft palate 50% Congenital diaphragmatic hernia 50% Delayed skeletal maturation 50% Epicanthus 50% Microcephaly 50% Non-midline cleft lip 50% Oligohydramnios 50% Single transverse palmar crease 50% Urogenital fistula 50% Webbed neck 50% Abnormality of retinal pigmentation 7.5% Abnormality of the ribs 7.5% Anencephaly 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arnold-Chiari malformation 7.5% Cataract 7.5% Cyclopia 7.5% Glaucoma 7.5% Holoprosencephaly 7.5% Iris coloboma 7.5% Microcornea 7.5% Postaxial hand polydactyly 7.5% Spina bifida 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Trisomy 18 ? assistant What are the signs and symptoms of Trisomy 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Trisomy 18. 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% Atria septal defect 90% Broad forehead 90% Camptodactyly of finger 90% Cognitive impairment 90% Cryptorchidism 90% Decreased body weight 90% Deviation of finger 90% Dolichocephaly 90% High forehead 90% Hypertelorism 90% Hypertonia 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Narrow face 90% Narrow mouth 90% Omphalocele 90% Pointed helix 90% Prominent occiput 90% Short nose 90% Short stature 90% Triangular face 90% Underdeveloped supraorbital ridges 90% Ventricular septal defect 90% Abnormality of female internal genitalia 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the hip bone 50% Abnormality of the toenails 50% Abnormality of the upper urinary tract 50% Blepharophimosis 50% Choanal atresia 50% Cleft palate 50% Congenital diaphragmatic hernia 50% Delayed skeletal maturation 50% Epicanthus 50% Microcephaly 50% Non-midline cleft lip 50% Oligohydramnios 50% Single transverse palmar crease 50% Urogenital fistula 50% Webbed neck 50% Abnormality of retinal pigmentation 7.5% Abnormality of the ribs 7.5% Anencephaly 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arnold-Chiari malformation 7.5% Cataract 7.5% Cyclopia 7.5% Glaucoma 7.5% Holoprosencephaly 7.5% Iris coloboma 7.5% Microcornea 7.5% Postaxial hand polydactyly 7.5% Spina bifida 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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What causes Trisomy 18 ?
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What causes Trisomy 18? In most cases, trisomy 18 is caused by having 3 copies of chromosome 18 in each cell in the body, instead of the usual 2 copies. The extra genetic material from the 3rd copy of the chromosome disrupts development, causing the characteristic signs and symptoms of the condition. About 5% of people with trisomy 18 have 'mosaic trisomy 18' (when there is an extra copy of the chromosome in only some of the body's cells). The severity of mosaic trisomy 18 depends on the number and locations of cells with the extra copy. Very rarely, an extra piece of chromosome 18 is attached to another chromosome; this is called translocation trisomy 18, or partial trisomy 18. If only part of the long (q) arm of chromosome 18 is present in 3 copies, the features may be less severe than in people with full trisomy 18.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Trisomy 18 ? assistant What causes Trisomy 18? In most cases, trisomy 18 is caused by having 3 copies of chromosome 18 in each cell in the body, instead of the usual 2 copies. The extra genetic material from the 3rd copy of the chromosome disrupts development, causing the characteristic signs and symptoms of the condition. About 5% of people with trisomy 18 have 'mosaic trisomy 18' (when there is an extra copy of the chromosome in only some of the body's cells). The severity of mosaic trisomy 18 depends on the number and locations of cells with the extra copy. Very rarely, an extra piece of chromosome 18 is attached to another chromosome; this is called translocation trisomy 18, or partial trisomy 18. If only part of the long (q) arm of chromosome 18 is present in 3 copies, the features may be less severe than in people with full trisomy 18.
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Is Trisomy 18 inherited ?
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Is trisomy 18 inherited? Most cases of trisomy 18 are not inherited and occur randomly due to errors in the formation of eggs or sperm. If an egg or sperm gains an extra copy of chromosome 18 during cell division and contributes to a pregnancy, the embryo will have an extra chromosome 18 (trisomy) in each cell of the body. Mosaic trisomy 18 (when some body cells have trisomy 18 and some have a normal chromosome make-up), is also typically not inherited. Mosaic trisomy 18 is also due to an error in cell division, but the error occurs early in embryonic development. About 5% of affected people have a mosaic form of trisomy 18. Partial trisomy 18 (when only part of chromosome 18 is present in 3 copies) can be inherited. An unaffected parent can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra or missing genetic material. However, a person with a balanced translocation has an increased risk with each pregnancy to have a child with trisomy 18.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Trisomy 18 inherited ? assistant Is trisomy 18 inherited? Most cases of trisomy 18 are not inherited and occur randomly due to errors in the formation of eggs or sperm. If an egg or sperm gains an extra copy of chromosome 18 during cell division and contributes to a pregnancy, the embryo will have an extra chromosome 18 (trisomy) in each cell of the body. Mosaic trisomy 18 (when some body cells have trisomy 18 and some have a normal chromosome make-up), is also typically not inherited. Mosaic trisomy 18 is also due to an error in cell division, but the error occurs early in embryonic development. About 5% of affected people have a mosaic form of trisomy 18. Partial trisomy 18 (when only part of chromosome 18 is present in 3 copies) can be inherited. An unaffected parent can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra or missing genetic material. However, a person with a balanced translocation has an increased risk with each pregnancy to have a child with trisomy 18.
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What is (are) Idiopathic acute eosinophilic pneumonia ?
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Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and symptoms may include fever, cough, fatigue, difficulty breathing (dyspnea), muscle pain, and chest pain. IAEP can progress rapidly to acute respiratory failure. The term idiopathic means the exact cause for the overproduction of eosinophils is not known. Possible triggers of acute eosinophilic pneumonia include cigarette smoking, occupational exposure to dust and smoke, and certain medications. Diagnosis of IAEP generally involves a bronchoscopy and bronchoalveolar lavage (BAL). Treatment with corticosteroids is effective in most cases. Because IAEP often progresses rapidly, respiratory failure can occur; in these cases, mechanical ventilation is required.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Idiopathic acute eosinophilic pneumonia ? assistant Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and symptoms may include fever, cough, fatigue, difficulty breathing (dyspnea), muscle pain, and chest pain. IAEP can progress rapidly to acute respiratory failure. The term idiopathic means the exact cause for the overproduction of eosinophils is not known. Possible triggers of acute eosinophilic pneumonia include cigarette smoking, occupational exposure to dust and smoke, and certain medications. Diagnosis of IAEP generally involves a bronchoscopy and bronchoalveolar lavage (BAL). Treatment with corticosteroids is effective in most cases. Because IAEP often progresses rapidly, respiratory failure can occur; in these cases, mechanical ventilation is required.
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What are the symptoms of Idiopathic acute eosinophilic pneumonia ?
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What are the signs and symptoms of Idiopathic acute eosinophilic pneumonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic acute eosinophilic pneumonia. 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 temperature regulation 90% Chest pain 90% Pulmonary infiltrates 90% Respiratory insufficiency 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormality of eosinophils 50% Abnormality of the pleura 50% Myalgia 50% 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Idiopathic acute eosinophilic pneumonia ? assistant What are the signs and symptoms of Idiopathic acute eosinophilic pneumonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic acute eosinophilic pneumonia. 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 temperature regulation 90% Chest pain 90% Pulmonary infiltrates 90% Respiratory insufficiency 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormality of eosinophils 50% Abnormality of the pleura 50% Myalgia 50% 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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What is (are) Opsismodysplasia ?
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Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Children with opsismodysplasia are at an increased risk for respiratory infections and respiratory failure. This condition is caused by mutations in the INPPL1 the gene. It is inherited in an autosomal recessive manner.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Opsismodysplasia ? assistant Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Children with opsismodysplasia are at an increased risk for respiratory infections and respiratory failure. This condition is caused by mutations in the INPPL1 the gene. It is inherited in an autosomal recessive manner.
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What are the symptoms of Opsismodysplasia ?
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What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormal vertebral ossification 90% Abnormality of epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Frontal bossing 90% Limb undergrowth 90% Macrocephaly 90% Respiratory insufficiency 90% Short nose 90% Tapered finger 90% Muscular hypotonia 50% Recurrent respiratory infections 50% Abnormality of thumb phalanx 7.5% Blue sclerae 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Narrow chest 7.5% Pectus excavatum 7.5% Splenomegaly 7.5% Hypophosphatemia 5% Renal phosphate wasting 5% Anterior rib cupping - Anteverted nares - Autosomal recessive inheritance - Bell-shaped thorax - Disproportionate short-limb short stature - Edema - Flat acetabular roof - Hypertelorism - Hypoplastic ischia - Hypoplastic pubic bone - Hypoplastic vertebral bodies - Large fontanelles - Long philtrum - Metaphyseal cupping - Polyhydramnios - Posterior rib cupping - Protuberant abdomen - Rhizomelia - Severe platyspondyly - Short foot - Short long bone - Short neck - Short palm - Squared iliac bones - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Opsismodysplasia ? assistant What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormal vertebral ossification 90% Abnormality of epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Frontal bossing 90% Limb undergrowth 90% Macrocephaly 90% Respiratory insufficiency 90% Short nose 90% Tapered finger 90% Muscular hypotonia 50% Recurrent respiratory infections 50% Abnormality of thumb phalanx 7.5% Blue sclerae 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Narrow chest 7.5% Pectus excavatum 7.5% Splenomegaly 7.5% Hypophosphatemia 5% Renal phosphate wasting 5% Anterior rib cupping - Anteverted nares - Autosomal recessive inheritance - Bell-shaped thorax - Disproportionate short-limb short stature - Edema - Flat acetabular roof - Hypertelorism - Hypoplastic ischia - Hypoplastic pubic bone - Hypoplastic vertebral bodies - Large fontanelles - Long philtrum - Metaphyseal cupping - Polyhydramnios - Posterior rib cupping - Protuberant abdomen - Rhizomelia - Severe platyspondyly - Short foot - Short long bone - Short neck - Short palm - Squared iliac bones - 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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What are the symptoms of Hoyeraal Hreidarsson syndrome ?
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What are the signs and symptoms of Hoyeraal Hreidarsson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hoyeraal Hreidarsson 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 immune system physiology 90% Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Abnormal hair quantity 50% Abnormality of coagulation 50% Abnormality of the nail 50% Abnormality of the oral cavity 50% Anemia 50% Cerebral cortical atrophy 50% Generalized hyperpigmentation 50% Hypertonia 50% Hypopigmentation of hair 50% Ventriculomegaly 50% Abnormality of leukocytes 7.5% Bone marrow hypocellularity 7.5% Cerebral calcification 7.5% Incoordination 7.5% Neoplasm 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hoyeraal Hreidarsson syndrome ? assistant What are the signs and symptoms of Hoyeraal Hreidarsson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hoyeraal Hreidarsson 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 immune system physiology 90% Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Abnormal hair quantity 50% Abnormality of coagulation 50% Abnormality of the nail 50% Abnormality of the oral cavity 50% Anemia 50% Cerebral cortical atrophy 50% Generalized hyperpigmentation 50% Hypertonia 50% Hypopigmentation of hair 50% Ventriculomegaly 50% Abnormality of leukocytes 7.5% Bone marrow hypocellularity 7.5% Cerebral calcification 7.5% Incoordination 7.5% Neoplasm 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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What is (are) Cherubism ?
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Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. The enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. The condition may be mild or severe. People with the severe form may have problems with vision, breathing, speech, and swallowing. Many adults with cherubism have a normal facial appearance. Most people with cherubism do not any other signs and symptoms. The condition is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene., in most cases.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Cherubism ? assistant Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. The enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. The condition may be mild or severe. People with the severe form may have problems with vision, breathing, speech, and swallowing. Many adults with cherubism have a normal facial appearance. Most people with cherubism do not any other signs and symptoms. The condition is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene., in most cases.
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What are the symptoms of Cherubism ?
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What are the signs and symptoms of Cherubism? Cherubism is characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is very mild and barely noticeable, while in other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance. The Human Phenotype Ontology provides the following list of signs and symptoms for Cherubism. 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 mandible 90% Neoplasm of the skeletal system 90% Abnormality of dental morphology 50% Reduced number of teeth 50% Abnormality of the voice 7.5% Apnea 7.5% Feeding difficulties in infancy 7.5% Optic atrophy 7.5% Proptosis 7.5% Visual impairment 7.5% Autosomal dominant inheritance - Childhood onset - Constriction of peripheral visual field - Macular scarring - Marcus Gunn pupil - Oligodontia - Optic neuropathy - Reduced visual acuity - Round face - Striae distensae - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Cherubism ? assistant What are the signs and symptoms of Cherubism? Cherubism is characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is very mild and barely noticeable, while in other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance. The Human Phenotype Ontology provides the following list of signs and symptoms for Cherubism. 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 mandible 90% Neoplasm of the skeletal system 90% Abnormality of dental morphology 50% Reduced number of teeth 50% Abnormality of the voice 7.5% Apnea 7.5% Feeding difficulties in infancy 7.5% Optic atrophy 7.5% Proptosis 7.5% Visual impairment 7.5% Autosomal dominant inheritance - Childhood onset - Constriction of peripheral visual field - Macular scarring - Marcus Gunn pupil - Oligodontia - Optic neuropathy - Reduced visual acuity - Round face - Striae distensae - 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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What causes Cherubism ?
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How does one get cherubism? What causes cherubism? Genetic changes (mutations) in the SH3BP2 gene cause cherubism. About 80 percent of people with cherubism have a mutation in the SH3BP2 gene. In most of the remaining cases, the genetic cause of the condition is unknown.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Cherubism ? assistant How does one get cherubism? What causes cherubism? Genetic changes (mutations) in the SH3BP2 gene cause cherubism. About 80 percent of people with cherubism have a mutation in the SH3BP2 gene. In most of the remaining cases, the genetic cause of the condition is unknown.
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Is Cherubism inherited ?
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If I find that I am not a carrier for cherubism can I still have children with the disease? Yes. Again, only 80 percent of people with cherubism have an identifiable mutation in the SH3BP2 gene. In the remaining cases, the cause is genetic, but unknown. Individuals who do not have an identifiable genetic cause can still have children with cherubism.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Cherubism inherited ? assistant If I find that I am not a carrier for cherubism can I still have children with the disease? Yes. Again, only 80 percent of people with cherubism have an identifiable mutation in the SH3BP2 gene. In the remaining cases, the cause is genetic, but unknown. Individuals who do not have an identifiable genetic cause can still have children with cherubism.
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What is (are) Osteopathia striata cranial sclerosis ?
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Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the condition are generally present at birth and may include skeletal abnormalities (particularly at the ends of long bones), sclerosis (hardening) of the craniofacial bones, macrocephaly (unusually large head size), and characteristic facial features. Some affected people may also have developmental delay, hearing loss, heart defects and/or ophthalmoplegia (paralysis of the muscles surrounding the eyes). Osteopathia striata cranial sclerosis is caused by changes (mutations) in the WTX gene and is inherited in an X-linked dominant manner. Treatment is based on the signs and symptoms present in each person.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Osteopathia striata cranial sclerosis ? assistant Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the condition are generally present at birth and may include skeletal abnormalities (particularly at the ends of long bones), sclerosis (hardening) of the craniofacial bones, macrocephaly (unusually large head size), and characteristic facial features. Some affected people may also have developmental delay, hearing loss, heart defects and/or ophthalmoplegia (paralysis of the muscles surrounding the eyes). Osteopathia striata cranial sclerosis is caused by changes (mutations) in the WTX gene and is inherited in an X-linked dominant manner. Treatment is based on the signs and symptoms present in each person.
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What are the symptoms of Osteopathia striata cranial sclerosis ?
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What are the signs and symptoms of Osteopathia striata cranial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopathia striata cranial sclerosis. 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 pelvic girdle bone morphology 90% Craniofacial hyperostosis 90% Rough bone trabeculation 90% Cleft palate 50% Conductive hearing impairment 50% Delayed eruption of teeth 50% Frontal bossing 50% Macrocephaly 50% Malar flattening 50% Scoliosis 50% Wide nasal bridge 50% Intellectual disability, mild 33% High palate 15% Abnormality of the aorta 7.5% Asymmetry of the thorax 7.5% Cataract 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Delayed speech and language development 7.5% Epicanthus 7.5% Facial palsy 7.5% Headache 7.5% Hyperlordosis 7.5% Low-set, posteriorly rotated ears 7.5% Neurological speech impairment 7.5% Short stature 7.5% Spina bifida occulta 7.5% Anal atresia 5% Anal stenosis 5% Multicystic kidney dysplasia 5% Omphalocele 5% Apnea - Arachnodactyly - Atria septal defect - Bifid uvula - Broad ribs - Camptodactyly - Cleft upper lip - Clinodactyly of the 5th finger - Craniofacial osteosclerosis - Delayed closure of the anterior fontanelle - Dental crowding - Dental malocclusion - Failure to thrive - Fibular aplasia - Fibular hypoplasia - Flexion contracture of toe - Gastroesophageal reflux - Hydrocephalus - Hypertelorism - Intestinal malrotation - Joint contracture of the hand - Large fontanelles - Laryngeal web - Microtia - Muscular hypotonia - Narrow forehead - Nasal speech - Natal tooth - Oligohydramnios - Osteopathia striata - Overfolded helix - Paranasal sinus hypoplasia - Partial agenesis of the corpus callosum - Patent ductus arteriosus - Pectus excavatum - Pierre-Robin sequence - Polyhydramnios - Sclerosis of skull base - Seizures - Straight clavicles - Talipes equinovarus - Thick lower lip vermilion - Thickened calvaria - Thoracolumbar kyphosis - Tracheomalacia - Ventricular septal defect - Webbed neck - Wide intermamillary distance - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Osteopathia striata cranial sclerosis ? assistant What are the signs and symptoms of Osteopathia striata cranial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopathia striata cranial sclerosis. 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 pelvic girdle bone morphology 90% Craniofacial hyperostosis 90% Rough bone trabeculation 90% Cleft palate 50% Conductive hearing impairment 50% Delayed eruption of teeth 50% Frontal bossing 50% Macrocephaly 50% Malar flattening 50% Scoliosis 50% Wide nasal bridge 50% Intellectual disability, mild 33% High palate 15% Abnormality of the aorta 7.5% Asymmetry of the thorax 7.5% Cataract 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Delayed speech and language development 7.5% Epicanthus 7.5% Facial palsy 7.5% Headache 7.5% Hyperlordosis 7.5% Low-set, posteriorly rotated ears 7.5% Neurological speech impairment 7.5% Short stature 7.5% Spina bifida occulta 7.5% Anal atresia 5% Anal stenosis 5% Multicystic kidney dysplasia 5% Omphalocele 5% Apnea - Arachnodactyly - Atria septal defect - Bifid uvula - Broad ribs - Camptodactyly - Cleft upper lip - Clinodactyly of the 5th finger - Craniofacial osteosclerosis - Delayed closure of the anterior fontanelle - Dental crowding - Dental malocclusion - Failure to thrive - Fibular aplasia - Fibular hypoplasia - Flexion contracture of toe - Gastroesophageal reflux - Hydrocephalus - Hypertelorism - Intestinal malrotation - Joint contracture of the hand - Large fontanelles - Laryngeal web - Microtia - Muscular hypotonia - Narrow forehead - Nasal speech - Natal tooth - Oligohydramnios - Osteopathia striata - Overfolded helix - Paranasal sinus hypoplasia - Partial agenesis of the corpus callosum - Patent ductus arteriosus - Pectus excavatum - Pierre-Robin sequence - Polyhydramnios - Sclerosis of skull base - Seizures - Straight clavicles - Talipes equinovarus - Thick lower lip vermilion - Thickened calvaria - Thoracolumbar kyphosis - Tracheomalacia - Ventricular septal defect - Webbed neck - Wide intermamillary distance - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What is (are) Neuronal ceroid lipofuscinosis 9 ?
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Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCL is unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Neuronal ceroid lipofuscinosis 9 ? assistant Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCL is unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
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What are the symptoms of Neuronal ceroid lipofuscinosis 9 ?
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What are the signs and symptoms of Neuronal ceroid lipofuscinosis 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 9. 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 recessive inheritance - Cerebral atrophy - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Death in childhood - Decreased light- and dark-adapted electroretinogram amplitude - Dysarthria - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Intellectual disability - Mutism - Optic atrophy - Progressive inability to walk - Progressive visual loss - Psychomotor deterioration - Rigidity - Rod-cone dystrophy - Scanning speech - Seizures - Vacuolated lymphocytes - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Neuronal ceroid lipofuscinosis 9 ? assistant What are the signs and symptoms of Neuronal ceroid lipofuscinosis 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 9. 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 recessive inheritance - Cerebral atrophy - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Death in childhood - Decreased light- and dark-adapted electroretinogram amplitude - Dysarthria - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Intellectual disability - Mutism - Optic atrophy - Progressive inability to walk - Progressive visual loss - Psychomotor deterioration - Rigidity - Rod-cone dystrophy - Scanning speech - Seizures - Vacuolated lymphocytes - 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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What is (are) Bilateral frontoparietal polymicrogyria ?
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Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Bilateral frontoparietal polymicrogyria ? assistant Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
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What are the symptoms of Bilateral frontoparietal polymicrogyria ?
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What are the signs and symptoms of Bilateral frontoparietal polymicrogyria? The signs and symptoms of bilateral frontoparietal polymicrogyria vary but may include: Moderate to severe intellectual disability Developmental delay Seizures Dysconjugate gaze (eyes that are not aligned) Ataxia Strabismus Increased muscle tone Finger dysmetria (difficulty controlling speed, distance and/or power of movements) The Human Phenotype Ontology provides the following list of signs and symptoms for Bilateral frontoparietal polymicrogyria. 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) Ankle clonus - Autosomal recessive inheritance - Babinski sign - Broad-based gait - Cerebellar hypoplasia - Cerebral dysmyelination - Esotropia - Exotropia - Frontoparietal polymicrogyria - Hyperreflexia - Hypertonia - Hypoplasia of the brainstem - Intellectual disability - Nystagmus - Polymicrogyria, anterior to posterior gradient - Seizures - Truncal ataxia - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Bilateral frontoparietal polymicrogyria ? assistant What are the signs and symptoms of Bilateral frontoparietal polymicrogyria? The signs and symptoms of bilateral frontoparietal polymicrogyria vary but may include: Moderate to severe intellectual disability Developmental delay Seizures Dysconjugate gaze (eyes that are not aligned) Ataxia Strabismus Increased muscle tone Finger dysmetria (difficulty controlling speed, distance and/or power of movements) The Human Phenotype Ontology provides the following list of signs and symptoms for Bilateral frontoparietal polymicrogyria. 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) Ankle clonus - Autosomal recessive inheritance - Babinski sign - Broad-based gait - Cerebellar hypoplasia - Cerebral dysmyelination - Esotropia - Exotropia - Frontoparietal polymicrogyria - Hyperreflexia - Hypertonia - Hypoplasia of the brainstem - Intellectual disability - Nystagmus - Polymicrogyria, anterior to posterior gradient - Seizures - Truncal ataxia - 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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What is (are) Mycetoma ?
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Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swelling and hardening of the affected area; skin rupture; and formation of sinus tracts (holes) that discharge pus and grains filled with organisms. Some affected people have no discomfort while others report itching and/or pain. Mycetoma is rare in the United States, but is commonly diagnosed in Africa, Mexico and India. In these countries, it occurs most frequently in farmers, shepherds, and people living in rural areas. Frequent exposure to penetrating wounds by thorns or splinters is a risk factor. Treatment varies based on the cause of the condition and may include antibiotics or antifungal medications.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Mycetoma ? assistant Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swelling and hardening of the affected area; skin rupture; and formation of sinus tracts (holes) that discharge pus and grains filled with organisms. Some affected people have no discomfort while others report itching and/or pain. Mycetoma is rare in the United States, but is commonly diagnosed in Africa, Mexico and India. In these countries, it occurs most frequently in farmers, shepherds, and people living in rural areas. Frequent exposure to penetrating wounds by thorns or splinters is a risk factor. Treatment varies based on the cause of the condition and may include antibiotics or antifungal medications.
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What are the symptoms of Uropathy distal obstructive polydactyly ?
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What are the signs and symptoms of Uropathy distal obstructive polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uropathy distal obstructive polydactyly. 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 cardiac septa - Abnormality of the larynx - Abnormality of the ureter - Abnormality of the uterus - Accessory spleen - Adrenal hypoplasia - Agenesis of corpus callosum - Ambiguous genitalia, female - Ambiguous genitalia, male - Anal atresia - Anencephaly - Arnold-Chiari malformation - Asplenia - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Breech presentation - Cerebellar hypoplasia - Cerebral hypoplasia - Cleft palate - Cleft upper lip - Clinodactyly - Coarctation of aorta - Cryptorchidism - Dandy-Walker malformation - Elevated amniotic fluid alpha-fetoprotein - External genital hypoplasia - Foot polydactyly - Hydrocephalus - Hypertelorism - Hypoplasia of the bladder - Hypotelorism - Intestinal malrotation - Intrauterine growth retardation - Iris coloboma - Large placenta - Lobulated tongue - Low-set ears - Microcephaly - Microphthalmia - Natal tooth - Occipital encephalocele - Olfactory lobe agenesis - Oligohydramnios - Omphalocele - Patent ductus arteriosus - Polycystic kidney dysplasia - Postaxial hand polydactyly - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Short neck - Single umbilical artery - Sloping forehead - Splenomegaly - Syndactyly - Talipes - Webbed neck - Wide mouth - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Uropathy distal obstructive polydactyly ? assistant What are the signs and symptoms of Uropathy distal obstructive polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uropathy distal obstructive polydactyly. 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 cardiac septa - Abnormality of the larynx - Abnormality of the ureter - Abnormality of the uterus - Accessory spleen - Adrenal hypoplasia - Agenesis of corpus callosum - Ambiguous genitalia, female - Ambiguous genitalia, male - Anal atresia - Anencephaly - Arnold-Chiari malformation - Asplenia - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Breech presentation - Cerebellar hypoplasia - Cerebral hypoplasia - Cleft palate - Cleft upper lip - Clinodactyly - Coarctation of aorta - Cryptorchidism - Dandy-Walker malformation - Elevated amniotic fluid alpha-fetoprotein - External genital hypoplasia - Foot polydactyly - Hydrocephalus - Hypertelorism - Hypoplasia of the bladder - Hypotelorism - Intestinal malrotation - Intrauterine growth retardation - Iris coloboma - Large placenta - Lobulated tongue - Low-set ears - Microcephaly - Microphthalmia - Natal tooth - Occipital encephalocele - Olfactory lobe agenesis - Oligohydramnios - Omphalocele - Patent ductus arteriosus - Polycystic kidney dysplasia - Postaxial hand polydactyly - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Short neck - Single umbilical artery - Sloping forehead - Splenomegaly - Syndactyly - Talipes - Webbed neck - Wide mouth - 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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What is (are) Paroxysmal nocturnal hemoglobinuria ?
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Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene; the condition is not passed down to children of affected individuals. Sometimes, people who have been treated for aplastic anemia may develop PNH. The treatment of PNH is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of PNH with aplastic anemia or those whose develop leukemia.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Paroxysmal nocturnal hemoglobinuria ? assistant Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene; the condition is not passed down to children of affected individuals. Sometimes, people who have been treated for aplastic anemia may develop PNH. The treatment of PNH is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of PNH with aplastic anemia or those whose develop leukemia.
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What are the symptoms of Progeroid syndrome Petty type ?
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What are the signs and symptoms of Progeroid syndrome Petty type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome Petty type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of hair texture 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Anonychia 90% Broad forehead 90% Cutis laxa 90% Decreased skull ossification 90% Epicanthus 90% Hypertrichosis 90% Intrauterine growth retardation 90% Lipoatrophy 90% Low-set, posteriorly rotated ears 90% Mandibular prognathia 90% Prematurely aged appearance 90% Reduced number of teeth 90% Sacrococcygeal pilonidal abnormality 90% Shagreen patch 90% Short distal phalanx of finger 90% Short stature 90% Strabismus 90% Thick eyebrow 90% Umbilical hernia 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Progeroid syndrome Petty type ? assistant What are the signs and symptoms of Progeroid syndrome Petty type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome Petty type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of hair texture 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Anonychia 90% Broad forehead 90% Cutis laxa 90% Decreased skull ossification 90% Epicanthus 90% Hypertrichosis 90% Intrauterine growth retardation 90% Lipoatrophy 90% Low-set, posteriorly rotated ears 90% Mandibular prognathia 90% Prematurely aged appearance 90% Reduced number of teeth 90% Sacrococcygeal pilonidal abnormality 90% Shagreen patch 90% Short distal phalanx of finger 90% Short stature 90% Strabismus 90% Thick eyebrow 90% Umbilical hernia 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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What are the symptoms of Omphalocele cleft palate syndrome lethal ?
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What are the signs and symptoms of Omphalocele cleft palate syndrome lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Omphalocele cleft palate syndrome lethal. 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) Omphalocele 90% Abnormality of female internal genitalia 50% Cleft palate 50% Hydrocephalus 50% Autosomal recessive inheritance - Bicornuate uterus - Bifid uvula - Death in infancy - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Omphalocele cleft palate syndrome lethal ? assistant What are the signs and symptoms of Omphalocele cleft palate syndrome lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Omphalocele cleft palate syndrome lethal. 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) Omphalocele 90% Abnormality of female internal genitalia 50% Cleft palate 50% Hydrocephalus 50% Autosomal recessive inheritance - Bicornuate uterus - Bifid uvula - Death in infancy - 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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What are the symptoms of Beukes familial hip dysplasia ?
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What are the signs and symptoms of Beukes familial hip dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Osteoarthritis 90% Kyphosis 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Childhood onset - Flat capital femoral epiphysis - Hip dysplasia - Irregular capital femoral epiphysis - Shallow acetabular fossae - Wide proximal femoral metaphysis - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Beukes familial hip dysplasia ? assistant What are the signs and symptoms of Beukes familial hip dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Osteoarthritis 90% Kyphosis 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Childhood onset - Flat capital femoral epiphysis - Hip dysplasia - Irregular capital femoral epiphysis - Shallow acetabular fossae - Wide proximal femoral metaphysis - 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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What are the symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism ?
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What are the signs and symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, infantile with cataract and hypogonadism. 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 testis 90% Gait disturbance 90% Mask-like facies 90% Muscular hypotonia 90% Polycystic ovaries 90% Skeletal muscle atrophy 90% Abnormality of the nipple 50% Cataract 50% Cubitus valgus 50% Joint hypermobility 50% Kyphosis 50% Ptosis 50% Strabismus 50% Autosomal recessive inheritance - Congenital muscular dystrophy - Hypogonadism - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism ? assistant What are the signs and symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, infantile with cataract and hypogonadism. 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 testis 90% Gait disturbance 90% Mask-like facies 90% Muscular hypotonia 90% Polycystic ovaries 90% Skeletal muscle atrophy 90% Abnormality of the nipple 50% Cataract 50% Cubitus valgus 50% Joint hypermobility 50% Kyphosis 50% Ptosis 50% Strabismus 50% Autosomal recessive inheritance - Congenital muscular dystrophy - Hypogonadism - 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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What causes Primary melanoma of the central nervous system ?
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What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inherited but occur during a person's lifetime. This mutation makes the Gnaq protein constantly active. The same mutation has been identified in approximately half of patients with intraocular melanoma.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Primary melanoma of the central nervous system ? assistant What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inherited but occur during a person's lifetime. This mutation makes the Gnaq protein constantly active. The same mutation has been identified in approximately half of patients with intraocular melanoma.
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What are the symptoms of Bardet-Biedl syndrome 8 ?
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What are the signs and symptoms of Bardet-Biedl syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 8. 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% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 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 - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - 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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Answer the question truthfully, you are a medical professional.
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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 8 ? assistant What are the signs and symptoms of Bardet-Biedl syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 8. 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% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 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 - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - 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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What is (are) Oculofaciocardiodental syndrome ?
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Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Oculofaciocardiodental syndrome ? assistant Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion.
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What are the symptoms of Oculofaciocardiodental syndrome ?
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What are the signs and symptoms of Oculofaciocardiodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculofaciocardiodental 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 cardiac septa 90% Aplasia/Hypoplasia affecting the eye 90% Cataract 90% Delayed eruption of teeth 90% Microcornea 90% Midline defect of the nose 90% Camptodactyly of toe 50% Cleft palate 50% Long philtrum 50% Narrow face 50% Prominent nasal bridge 50% Radioulnar synostosis 50% Reduced number of teeth 50% Toe syndactyly 50% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Aplasia/Hypoplasia of the thumb 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Ectopia lentis 7.5% Feeding difficulties in infancy 7.5% Genu valgum 7.5% Glaucoma 7.5% Highly arched eyebrow 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Ptosis 7.5% Retinal detachment 7.5% Scoliosis 7.5% Sensorineural hearing impairment 7.5% Adrenal insufficiency 5% Decreased body weight 5% Dextrocardia 5% Double outlet right ventricle 5% Flexion contracture 5% Hand clenching 5% Hypoplasia of the corpus callosum 5% Hypospadias 5% Hypothyroidism 5% Phthisis bulbi 5% Seizures 5% Spastic paraparesis 5% Talipes equinovarus 5% Umbilical hernia 5% 2-3 toe syndactyly - Anophthalmia - Aortic valve stenosis - Asymmetry of the ears - Atria septal defect - Bifid nasal tip - Bifid uvula - Blepharophimosis - Broad nasal tip - Congenital cataract - Cryptorchidism - Dental malocclusion - Exotropia - Fused teeth - Hammertoe - Increased number of teeth - Intellectual disability, mild - Laterally curved eyebrow - Long face - Microcephaly - Microphthalmia - Mitral valve prolapse - Motor delay - Oligodontia - Persistence of primary teeth - Persistent hyperplastic primary vitreous - Posteriorly rotated ears - Pulmonic stenosis - Septate vagina - Short stature - Submucous cleft hard palate - Thick eyebrow - Ventricular septal defect - Visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Oculofaciocardiodental syndrome ? assistant What are the signs and symptoms of Oculofaciocardiodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculofaciocardiodental 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 cardiac septa 90% Aplasia/Hypoplasia affecting the eye 90% Cataract 90% Delayed eruption of teeth 90% Microcornea 90% Midline defect of the nose 90% Camptodactyly of toe 50% Cleft palate 50% Long philtrum 50% Narrow face 50% Prominent nasal bridge 50% Radioulnar synostosis 50% Reduced number of teeth 50% Toe syndactyly 50% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Aplasia/Hypoplasia of the thumb 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Ectopia lentis 7.5% Feeding difficulties in infancy 7.5% Genu valgum 7.5% Glaucoma 7.5% Highly arched eyebrow 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Ptosis 7.5% Retinal detachment 7.5% Scoliosis 7.5% Sensorineural hearing impairment 7.5% Adrenal insufficiency 5% Decreased body weight 5% Dextrocardia 5% Double outlet right ventricle 5% Flexion contracture 5% Hand clenching 5% Hypoplasia of the corpus callosum 5% Hypospadias 5% Hypothyroidism 5% Phthisis bulbi 5% Seizures 5% Spastic paraparesis 5% Talipes equinovarus 5% Umbilical hernia 5% 2-3 toe syndactyly - Anophthalmia - Aortic valve stenosis - Asymmetry of the ears - Atria septal defect - Bifid nasal tip - Bifid uvula - Blepharophimosis - Broad nasal tip - Congenital cataract - Cryptorchidism - Dental malocclusion - Exotropia - Fused teeth - Hammertoe - Increased number of teeth - Intellectual disability, mild - Laterally curved eyebrow - Long face - Microcephaly - Microphthalmia - Mitral valve prolapse - Motor delay - Oligodontia - Persistence of primary teeth - Persistent hyperplastic primary vitreous - Posteriorly rotated ears - Pulmonic stenosis - Septate vagina - Short stature - Submucous cleft hard palate - Thick eyebrow - Ventricular septal defect - Visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Acrocapitofemoral dysplasia ?
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What are the signs and symptoms of Acrocapitofemoral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocapitofemoral dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the hip bone 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Delayed skeletal maturation 90% Micromelia 90% Short stature 90% Abnormal form of the vertebral bodies 50% Abnormality of the metacarpal bones 50% Anonychia 50% Genu varum 50% Hyperlordosis 50% Macrocephaly 7.5% Narrow chest 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Scoliosis 7.5% Short thorax 7.5% Autosomal recessive inheritance - Broad nail - Cone-shaped capital femoral epiphysis - Cone-shaped epiphysis of the 1st metacarpal - Coxa vara - Cupped ribs - Delayed ossification of carpal bones - Disproportionate short stature - Disproportionate short-limb short stature - Dysplasia of the femoral head - Enlargement of the distal femoral epiphysis - Fibular overgrowth - Flared iliac wings - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic iliac wing - Lumbar hyperlordosis - Ovoid vertebral bodies - Relative macrocephaly - Short distal phalanx of finger - Short femoral neck - Short femur - Short humerus - Short metacarpal - Short palm - Short proximal phalanx of finger - Short proximal phalanx of thumb - Short ribs - Short tibia - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Acrocapitofemoral dysplasia ? assistant What are the signs and symptoms of Acrocapitofemoral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocapitofemoral dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the hip bone 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Delayed skeletal maturation 90% Micromelia 90% Short stature 90% Abnormal form of the vertebral bodies 50% Abnormality of the metacarpal bones 50% Anonychia 50% Genu varum 50% Hyperlordosis 50% Macrocephaly 7.5% Narrow chest 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Scoliosis 7.5% Short thorax 7.5% Autosomal recessive inheritance - Broad nail - Cone-shaped capital femoral epiphysis - Cone-shaped epiphysis of the 1st metacarpal - Coxa vara - Cupped ribs - Delayed ossification of carpal bones - Disproportionate short stature - Disproportionate short-limb short stature - Dysplasia of the femoral head - Enlargement of the distal femoral epiphysis - Fibular overgrowth - Flared iliac wings - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic iliac wing - Lumbar hyperlordosis - Ovoid vertebral bodies - Relative macrocephaly - Short distal phalanx of finger - Short femoral neck - Short femur - Short humerus - Short metacarpal - Short palm - Short proximal phalanx of finger - Short proximal phalanx of thumb - Short ribs - Short tibia - 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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What are the symptoms of Vocal cord dysfunction familial ?
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What are the signs and symptoms of Vocal cord dysfunction familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Vocal cord dysfunction familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Laryngomalacia 90% Respiratory insufficiency 50% Autosomal dominant inheritance - Dysphagia - Microcephaly - Stridor - Vocal cord paralysis - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Vocal cord dysfunction familial ? assistant What are the signs and symptoms of Vocal cord dysfunction familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Vocal cord dysfunction familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Laryngomalacia 90% Respiratory insufficiency 50% Autosomal dominant inheritance - Dysphagia - Microcephaly - Stridor - Vocal cord paralysis - 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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What are the symptoms of Camptodactyly syndrome Guadalajara type 1 ?
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What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Aplasia/Hypoplasia of the earlobes 90% Camptodactyly of finger 90% Dental malocclusion 90% Malar flattening 90% Pectus carinatum 90% Pectus excavatum 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the palate 50% Anteverted nares 50% Brachydactyly syndrome 50% Cognitive impairment 50% Cubitus valgus 50% Delayed skeletal maturation 50% Depressed nasal bridge 50% Downturned corners of mouth 50% Epicanthus 50% Hallux valgus 50% Intrauterine growth retardation 50% Mandibular prognathia 50% Melanocytic nevus 50% Microcephaly 50% Microcornea 50% Narrow chest 50% Narrow face 50% Narrow mouth 50% Seizures 50% Short nose 50% Short stature 50% Short toe 50% Spina bifida 50% Sprengel anomaly 50% Toe syndactyly 50% Underdeveloped supraorbital ridges 50% Blepharophimosis 7.5% Highly arched eyebrow 7.5% Long face 7.5% Low-set, posteriorly rotated ears 7.5% Sacral dimple 7.5% Short distal phalanx of finger 7.5% Synophrys 7.5% Abnormality of dental eruption - Absent ethmoidal sinuses - Absent frontal sinuses - Autosomal recessive inheritance - Bifid uvula - Brachycephaly - Camptodactyly of 2nd-5th fingers - Fibular hypoplasia - Flat face - High palate - Horizontal sacrum - Hypertelorism - Hypoplasia of midface - Hypoplastic 5th lumbar vertebrae - Hypoplastic iliac wing - Intellectual disability - Long neck - Low-set ears - Lumbar hyperlordosis - Microtia - Overfolding of the superior helices - Posteriorly rotated ears - Scapular winging - Short femoral neck - Short foot - Short metatarsal - Short palm - Short palpebral fissure - Small earlobe - Spina bifida occulta - Tubular metacarpal bones - Twelfth rib hypoplasia - Upslanted palpebral fissure - Wormian bones - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Camptodactyly syndrome Guadalajara type 1 ? assistant What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Aplasia/Hypoplasia of the earlobes 90% Camptodactyly of finger 90% Dental malocclusion 90% Malar flattening 90% Pectus carinatum 90% Pectus excavatum 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the palate 50% Anteverted nares 50% Brachydactyly syndrome 50% Cognitive impairment 50% Cubitus valgus 50% Delayed skeletal maturation 50% Depressed nasal bridge 50% Downturned corners of mouth 50% Epicanthus 50% Hallux valgus 50% Intrauterine growth retardation 50% Mandibular prognathia 50% Melanocytic nevus 50% Microcephaly 50% Microcornea 50% Narrow chest 50% Narrow face 50% Narrow mouth 50% Seizures 50% Short nose 50% Short stature 50% Short toe 50% Spina bifida 50% Sprengel anomaly 50% Toe syndactyly 50% Underdeveloped supraorbital ridges 50% Blepharophimosis 7.5% Highly arched eyebrow 7.5% Long face 7.5% Low-set, posteriorly rotated ears 7.5% Sacral dimple 7.5% Short distal phalanx of finger 7.5% Synophrys 7.5% Abnormality of dental eruption - Absent ethmoidal sinuses - Absent frontal sinuses - Autosomal recessive inheritance - Bifid uvula - Brachycephaly - Camptodactyly of 2nd-5th fingers - Fibular hypoplasia - Flat face - High palate - Horizontal sacrum - Hypertelorism - Hypoplasia of midface - Hypoplastic 5th lumbar vertebrae - Hypoplastic iliac wing - Intellectual disability - Long neck - Low-set ears - Lumbar hyperlordosis - Microtia - Overfolding of the superior helices - Posteriorly rotated ears - Scapular winging - Short femoral neck - Short foot - Short metatarsal - Short palm - Short palpebral fissure - Small earlobe - Spina bifida occulta - Tubular metacarpal bones - Twelfth rib hypoplasia - Upslanted palpebral fissure - Wormian bones - 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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What is (are) Fanconi anemia ?
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Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Fanconi anemia ? assistant Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion.
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What are the symptoms of Fanconi anemia ?
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What are the signs and symptoms of Fanconi anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi anemia. 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 stability 90% Anemia 90% Aplasia/Hypoplasia of the radius 90% Bone marrow hypocellularity 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Leukopenia 90% Short stature 90% Thrombocytopenia 90% Blepharophimosis 50% Cognitive impairment 50% Microcephaly 50% Scoliosis 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the aorta 7.5% Abnormality of the aortic valve 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the femur 7.5% Abnormality of the hip bone 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the liver 7.5% Abnormality of the preputium 7.5% Abnormality of the ulna 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the uvula 7.5% Arteriovenous malformation 7.5% Astigmatism 7.5% Atria septal defect 7.5% Cafe-au-lait spot 7.5% Cataract 7.5% Choanal atresia 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Clubbing of toes 7.5% Cranial nerve paralysis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Dolichocephaly 7.5% Duodenal stenosis 7.5% Epicanthus 7.5% External ear malformation 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Frontal bossing 7.5% Functional abnormality of male internal genitalia 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Hypertrophic cardiomyopathy 7.5% Intrauterine growth retardation 7.5% Meckel diverticulum 7.5% Myelodysplasia 7.5% Nystagmus 7.5% Oligohydramnios 7.5% Patent ductus arteriosus 7.5% Pes planus 7.5% Proptosis 7.5% Ptosis 7.5% Recurrent urinary tract infections 7.5% Reduced bone mineral density 7.5% Renal hypoplasia/aplasia 7.5% Renal insufficiency 7.5% Sloping forehead 7.5% Spina bifida 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Tracheoesophageal fistula 7.5% Triphalangeal thumb 7.5% Umbilical hernia 7.5% Upslanted palpebral fissure 7.5% Urogenital fistula 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Weight loss 7.5% Abnormality of cardiovascular system morphology - Abnormality of skin pigmentation - Absent radius - Absent thumb - Anemic pallor - Bruising susceptibility - Chromosomal breakage induced by crosslinking agents - Complete duplication of thumb phalanx - Deficient excision of UV-induced pyrimidine dimers in DNA - Duplicated collecting system - Ectopic kidney - Horseshoe kidney - Hypergonadotropic hypogonadism - Intellectual disability - Leukemia - Microphthalmia - Neutropenia - Pancytopenia - Prolonged G2 phase of cell cycle - Renal agenesis - Reticulocytopenia - Short thumb - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Fanconi anemia ? assistant What are the signs and symptoms of Fanconi anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi anemia. 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 stability 90% Anemia 90% Aplasia/Hypoplasia of the radius 90% Bone marrow hypocellularity 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Leukopenia 90% Short stature 90% Thrombocytopenia 90% Blepharophimosis 50% Cognitive impairment 50% Microcephaly 50% Scoliosis 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the aorta 7.5% Abnormality of the aortic valve 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the femur 7.5% Abnormality of the hip bone 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the liver 7.5% Abnormality of the preputium 7.5% Abnormality of the ulna 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the uvula 7.5% Arteriovenous malformation 7.5% Astigmatism 7.5% Atria septal defect 7.5% Cafe-au-lait spot 7.5% Cataract 7.5% Choanal atresia 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Clubbing of toes 7.5% Cranial nerve paralysis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Dolichocephaly 7.5% Duodenal stenosis 7.5% Epicanthus 7.5% External ear malformation 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Frontal bossing 7.5% Functional abnormality of male internal genitalia 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Hypertrophic cardiomyopathy 7.5% Intrauterine growth retardation 7.5% Meckel diverticulum 7.5% Myelodysplasia 7.5% Nystagmus 7.5% Oligohydramnios 7.5% Patent ductus arteriosus 7.5% Pes planus 7.5% Proptosis 7.5% Ptosis 7.5% Recurrent urinary tract infections 7.5% Reduced bone mineral density 7.5% Renal hypoplasia/aplasia 7.5% Renal insufficiency 7.5% Sloping forehead 7.5% Spina bifida 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Tracheoesophageal fistula 7.5% Triphalangeal thumb 7.5% Umbilical hernia 7.5% Upslanted palpebral fissure 7.5% Urogenital fistula 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Weight loss 7.5% Abnormality of cardiovascular system morphology - Abnormality of skin pigmentation - Absent radius - Absent thumb - Anemic pallor - Bruising susceptibility - Chromosomal breakage induced by crosslinking agents - Complete duplication of thumb phalanx - Deficient excision of UV-induced pyrimidine dimers in DNA - Duplicated collecting system - Ectopic kidney - Horseshoe kidney - Hypergonadotropic hypogonadism - Intellectual disability - Leukemia - Microphthalmia - Neutropenia - Pancytopenia - Prolonged G2 phase of cell cycle - Renal agenesis - Reticulocytopenia - Short thumb - 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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What are the symptoms of Syndactyly type 9 ?
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What are the signs and symptoms of Syndactyly type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Adactyly 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Toe syndactyly 90% Clinodactyly of the 5th finger 50% Symphalangism affecting the phalanges of the hand 50% Synostosis of carpal bones 50% 3-4 finger syndactyly - Aplasia/Hypoplasia of the hallux - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Autosomal recessive inheritance - Proximal/middle symphalangism of 5th finger - Single transverse palmar crease - Symphalangism affecting the phalanges of the hallux - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Syndactyly type 9 ? assistant What are the signs and symptoms of Syndactyly type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Adactyly 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Toe syndactyly 90% Clinodactyly of the 5th finger 50% Symphalangism affecting the phalanges of the hand 50% Synostosis of carpal bones 50% 3-4 finger syndactyly - Aplasia/Hypoplasia of the hallux - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Autosomal recessive inheritance - Proximal/middle symphalangism of 5th finger - Single transverse palmar crease - Symphalangism affecting the phalanges of the hallux - 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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What are the symptoms of Sea-Blue histiocytosis ?
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What are the signs and symptoms of Sea-Blue histiocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sea-Blue histiocytosis. 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 coagulation 90% Blepharitis 90% Edema 90% Hepatomegaly 90% Mediastinal lymphadenopathy 90% Splenomegaly 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Pulmonary infiltrates 50% Irregular hyperpigmentation 7.5% Retinopathy 7.5% Abnormality of the eye - Absent axillary hair - Autosomal recessive inheritance - Cirrhosis - Sea-blue histiocytosis - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Sea-Blue histiocytosis ? assistant What are the signs and symptoms of Sea-Blue histiocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sea-Blue histiocytosis. 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 coagulation 90% Blepharitis 90% Edema 90% Hepatomegaly 90% Mediastinal lymphadenopathy 90% Splenomegaly 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Pulmonary infiltrates 50% Irregular hyperpigmentation 7.5% Retinopathy 7.5% Abnormality of the eye - Absent axillary hair - Autosomal recessive inheritance - Cirrhosis - Sea-blue histiocytosis - 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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What is (are) Globozoospermia ?
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Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with globozoospermia have changes (mutations) in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown; however, researchers suspect that mutations in other genes likely cause globozoospermia. Although there is currently no cure for the condition, certain assisted reproductive technologies (ICSI combined with assisted egg cell activation, specifically) can help men affected by the condition conceive children.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Globozoospermia ? assistant Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with globozoospermia have changes (mutations) in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown; however, researchers suspect that mutations in other genes likely cause globozoospermia. Although there is currently no cure for the condition, certain assisted reproductive technologies (ICSI combined with assisted egg cell activation, specifically) can help men affected by the condition conceive children.
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What are the symptoms of Globozoospermia ?
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What are the signs and symptoms of Globozoospermia? The Human Phenotype Ontology provides the following list of signs and symptoms for Globozoospermia. 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 - Globozoospermia - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Globozoospermia ? assistant What are the signs and symptoms of Globozoospermia? The Human Phenotype Ontology provides the following list of signs and symptoms for Globozoospermia. 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 - Globozoospermia - 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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What is (are) Felty's syndrome ?
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Felty's syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. Although some individuals with Felty's syndrome are asymptomatic, others can develop serious and life-threatening infections. Symptoms of Felty's syndrome, in addition to those associated with the three conditions stated above, may include fatigue, fever, weight loss, discoloration of patches of skin, mild hepatomegaly (enlarged liver), lymphadenopathy (swelling of lymph nodes), Sjgren syndrome, vasculitis, lower-extremity ulcers, and other findings. The exact cause is unknown, but several risk factors have been proposed, including autoimmunity. A few familial cases of the condition have been reported. Treatment typically focuses on controlling the underlying RA; immunosuppressive therapy for RA may improve neutropenia and splenomegaly.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Felty's syndrome ? assistant Felty's syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. Although some individuals with Felty's syndrome are asymptomatic, others can develop serious and life-threatening infections. Symptoms of Felty's syndrome, in addition to those associated with the three conditions stated above, may include fatigue, fever, weight loss, discoloration of patches of skin, mild hepatomegaly (enlarged liver), lymphadenopathy (swelling of lymph nodes), Sjgren syndrome, vasculitis, lower-extremity ulcers, and other findings. The exact cause is unknown, but several risk factors have been proposed, including autoimmunity. A few familial cases of the condition have been reported. Treatment typically focuses on controlling the underlying RA; immunosuppressive therapy for RA may improve neutropenia and splenomegaly.
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What are the symptoms of Felty's syndrome ?
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What are the signs and symptoms of Felty's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Felty's 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 neutrophils 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Limitation of joint mobility 90% Osteolysis 90% Abnormality of lymphocytes 50% Anemia 50% Lymphadenopathy 50% Otitis media 50% Recurrent pharyngitis 50% Sinusitis 50% Splenomegaly 50% Weight loss 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Bone marrow hypocellularity 7.5% Cellulitis 7.5% Generalized hyperpigmentation 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Irregular hyperpigmentation 7.5% Lymphoma 7.5% Peripheral neuropathy 7.5% Pulmonary fibrosis 7.5% Recurrent urinary tract infections 7.5% Sepsis 7.5% Skin ulcer 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Neutropenia - Rheumatoid arthritis - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Felty's syndrome ? assistant What are the signs and symptoms of Felty's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Felty's 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 neutrophils 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Limitation of joint mobility 90% Osteolysis 90% Abnormality of lymphocytes 50% Anemia 50% Lymphadenopathy 50% Otitis media 50% Recurrent pharyngitis 50% Sinusitis 50% Splenomegaly 50% Weight loss 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Bone marrow hypocellularity 7.5% Cellulitis 7.5% Generalized hyperpigmentation 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Irregular hyperpigmentation 7.5% Lymphoma 7.5% Peripheral neuropathy 7.5% Pulmonary fibrosis 7.5% Recurrent urinary tract infections 7.5% Sepsis 7.5% Skin ulcer 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Neutropenia - Rheumatoid arthritis - 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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What causes Felty's syndrome ?
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What causes Felty's syndrome? The exact cause of Felty's syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. Other proposed risk factors have included: RF (rheumatoid factor) positivity - being positive for a test used to help diagnose rheumatoid arthritis Long-term rheumatoid arthritis Aggressive and erosive synovitis (inflammation of the tissue that lines the joints) HLA-DR4 positivity (having a specific gene for the immune system that is associated with RA) and DR4 homozygosity (having 2 identical copies of this gene) Extra-articular RA manifestations (symptoms that are not joint-related)
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Felty's syndrome ? assistant What causes Felty's syndrome? The exact cause of Felty's syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. Other proposed risk factors have included: RF (rheumatoid factor) positivity - being positive for a test used to help diagnose rheumatoid arthritis Long-term rheumatoid arthritis Aggressive and erosive synovitis (inflammation of the tissue that lines the joints) HLA-DR4 positivity (having a specific gene for the immune system that is associated with RA) and DR4 homozygosity (having 2 identical copies of this gene) Extra-articular RA manifestations (symptoms that are not joint-related)
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Is Felty's syndrome inherited ?
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Is Felty's syndrome inherited? It has not been concluded that Felty's syndrome is an inherited condition; most individuals with Felty's syndrome have not had a history of the condition in their family. However, there have been a few reports of the condition appearing to be familial. Furthermore, although the condition itself may not be inherited, some of the risk factors associated with Felty's syndrome may have genetic components. One study found that a family history of rheumatoid arthritis was more common in patients with Felty's syndrome and that there was a strong association with HLA-DR4 (an immune system gene common in individuals with RA). The authors also stated that there was an increased frequency of another gene as well, suggesting that certain other immune system genes may interact with HLA-DR4 and contribute to individuals developing Felty's syndrome. In another report, the authors described a family in which 3 siblings had Felty's syndrome. All of the siblings shared a specific haplotype (a group of immune system genes that may be inherited together). The authors stated that they believe this supports the theory that multiple genetic factors are involved in family members being predisposed to Felty's syndrome. An earlier article described a family in which the mother and 2 of her 5 children had Felty's syndrome, which suggested autosomal dominant inheritance (which has not otherwise been reported).
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Felty's syndrome inherited ? assistant Is Felty's syndrome inherited? It has not been concluded that Felty's syndrome is an inherited condition; most individuals with Felty's syndrome have not had a history of the condition in their family. However, there have been a few reports of the condition appearing to be familial. Furthermore, although the condition itself may not be inherited, some of the risk factors associated with Felty's syndrome may have genetic components. One study found that a family history of rheumatoid arthritis was more common in patients with Felty's syndrome and that there was a strong association with HLA-DR4 (an immune system gene common in individuals with RA). The authors also stated that there was an increased frequency of another gene as well, suggesting that certain other immune system genes may interact with HLA-DR4 and contribute to individuals developing Felty's syndrome. In another report, the authors described a family in which 3 siblings had Felty's syndrome. All of the siblings shared a specific haplotype (a group of immune system genes that may be inherited together). The authors stated that they believe this supports the theory that multiple genetic factors are involved in family members being predisposed to Felty's syndrome. An earlier article described a family in which the mother and 2 of her 5 children had Felty's syndrome, which suggested autosomal dominant inheritance (which has not otherwise been reported).
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What is (are) Aspergillosis ?
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Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Aspergillosis ? assistant Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.
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What are the treatments for Aspergillosis ?
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How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot take voriconazole or who have not responded to voriconazole. These include itraconazole, lipid amphotericin formulations, caspofungin, micafungin, and posaconazole. Whenever possible, immunosuppressive medications should be discontinued or decreased. A fungus ball usually does not require treatment unless bleeding into the lung tissue is associated with the infection, then surgery is required. Antifungal agents do not help people with allergic aspergillosis. Allergic aspergillosis is treated with prednisone taken by mouth.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Aspergillosis ? assistant How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot take voriconazole or who have not responded to voriconazole. These include itraconazole, lipid amphotericin formulations, caspofungin, micafungin, and posaconazole. Whenever possible, immunosuppressive medications should be discontinued or decreased. A fungus ball usually does not require treatment unless bleeding into the lung tissue is associated with the infection, then surgery is required. Antifungal agents do not help people with allergic aspergillosis. Allergic aspergillosis is treated with prednisone taken by mouth.
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What is (are) Primary angiitis of the central nervous system ?
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Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually cause aneurysms, ischemia and/or hemmorrhage. The cause of this condition is unknown. Signs and symptoms of this condition may begin suddenly or develop over time. Some of the symptoms may incude headaches that do not go away, fever, rapid weight loss, confusion or forgetfulness, and general malaise. Treatment for this condition involves a course of immunosuppresive steroids.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Primary angiitis of the central nervous system ? assistant Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually cause aneurysms, ischemia and/or hemmorrhage. The cause of this condition is unknown. Signs and symptoms of this condition may begin suddenly or develop over time. Some of the symptoms may incude headaches that do not go away, fever, rapid weight loss, confusion or forgetfulness, and general malaise. Treatment for this condition involves a course of immunosuppresive steroids.
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What are the treatments for Primary angiitis of the central nervous system ?
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How might primary angiitis of the central nervous system be treated? The current treatment recommendation is to start with oral prednisone at a dose of 1 mg/kg per day and cyclophosphamide at a dose of 2 mg/kg per day. Most centers use prednisone and cyclophosphamide for 4-6 months to induce clinical remission, and then taper prednisone off. Patients generally stay on cyclophosphamide therapy between three and six months, depending on when remission occurs and if there are any potential side effects from cyclophosphamide. Once cyclophosphamide is discontinued, it should be replaced with a less toxic medication for an additional six to twelve months of maintenance therapy. Some doctors switch from cyclophosphamide to azathioprine (2 mg/kg) or mycophenolate mofetil. Methotrexate can also be used, but may be limited by its difficulty to cross the blood brain barrier. There is limited data on how long the maintenance therapy lasts so the decision on the duration of the therapy should be individualized, based upon how the patient responds to therapy.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Primary angiitis of the central nervous system ? assistant How might primary angiitis of the central nervous system be treated? The current treatment recommendation is to start with oral prednisone at a dose of 1 mg/kg per day and cyclophosphamide at a dose of 2 mg/kg per day. Most centers use prednisone and cyclophosphamide for 4-6 months to induce clinical remission, and then taper prednisone off. Patients generally stay on cyclophosphamide therapy between three and six months, depending on when remission occurs and if there are any potential side effects from cyclophosphamide. Once cyclophosphamide is discontinued, it should be replaced with a less toxic medication for an additional six to twelve months of maintenance therapy. Some doctors switch from cyclophosphamide to azathioprine (2 mg/kg) or mycophenolate mofetil. Methotrexate can also be used, but may be limited by its difficulty to cross the blood brain barrier. There is limited data on how long the maintenance therapy lasts so the decision on the duration of the therapy should be individualized, based upon how the patient responds to therapy.
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What are the symptoms of Leber congenital amaurosis 4 ?
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What are the signs and symptoms of Leber congenital amaurosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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) Keratoconus 5% Attenuation of retinal blood vessels - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Macular atrophy - Nyctalopia - Optic disc pallor - Pendular nystagmus - Reduced visual acuity - Undetectable light- and dark-adapted electroretinogram - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Leber congenital amaurosis 4 ? assistant What are the signs and symptoms of Leber congenital amaurosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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) Keratoconus 5% Attenuation of retinal blood vessels - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Macular atrophy - Nyctalopia - Optic disc pallor - Pendular nystagmus - Reduced visual acuity - Undetectable light- and dark-adapted electroretinogram - 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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What are the symptoms of Verloove Vanhorick Brubakk syndrome ?
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What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the metacarpal bones 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the sacrum 90% Atresia of the external auditory canal 90% Cleft palate 90% Cryptorchidism 90% Limb undergrowth 90% Low-set, posteriorly rotated ears 90% Non-midline cleft lip 90% Tarsal synostosis 90% Abnormal localization of kidney 50% Finger syndactyly 50% Growth abnormality - Syndactyly - Truncus arteriosus - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Verloove Vanhorick Brubakk syndrome ? assistant What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the metacarpal bones 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the sacrum 90% Atresia of the external auditory canal 90% Cleft palate 90% Cryptorchidism 90% Limb undergrowth 90% Low-set, posteriorly rotated ears 90% Non-midline cleft lip 90% Tarsal synostosis 90% Abnormal localization of kidney 50% Finger syndactyly 50% Growth abnormality - Syndactyly - Truncus arteriosus - 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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What is (are) Limited cutaneous systemic sclerosis ?
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Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals. Management is aimed at treating the symptoms present in each affected individual.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Limited cutaneous systemic sclerosis ? assistant Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals. Management is aimed at treating the symptoms present in each affected individual.
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What are the symptoms of Limited cutaneous systemic sclerosis ?
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What are the signs and symptoms of Limited cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Limited cutaneous systemic sclerosis. 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) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Hypopigmented skin patches 90% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Mucosal telangiectasiae 50% Nausea and vomiting 50% Skin ulcer 50% Telangiectasia of the skin 50% Camptodactyly of toe 7.5% Pulmonary fibrosis 7.5% Pulmonary hypertension 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Limited cutaneous systemic sclerosis ? assistant What are the signs and symptoms of Limited cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Limited cutaneous systemic sclerosis. 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) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Hypopigmented skin patches 90% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Mucosal telangiectasiae 50% Nausea and vomiting 50% Skin ulcer 50% Telangiectasia of the skin 50% Camptodactyly of toe 7.5% Pulmonary fibrosis 7.5% Pulmonary hypertension 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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What are the treatments for Limited cutaneous systemic sclerosis ?
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How might CREST syndrome be treated? Unfortunately, CREST syndrome has no known cure. The condition carries both physical and psychological consequences, so a holistic approach to management should be taken. Treatment generally focuses on relieving signs and symptoms and preventing complications. Heartburn may be relieved by antacid medications that reduce the production of stomach acid. Medications that open small blood vessels and increase circulation may help relieve Raynaud's symptoms and reduce increased pressure in the arteries between the heart and lungs. Drugs that suppress the immune system have shown promise in preventing interstitial lung disease (a condition in which excess collagen collects in the tissue between the lungs' air sacs) in some people with CREST syndrome. To prevent loss of mobility, stretching exercises for the finger joints are important. A physical therapist can also show affected individuals some facial exercises that may help keep the face and mouth flexible. If CREST syndrome is making it difficult to perform daily tasks, an occupational therapist can help individuals learn new ways of doing things. For example, special toothbrushes and flossing devices can make it easier to care for the teeth. Surgery may be necessary for some affected individuals. Large or painful calcium deposits sometimes need to be surgically removed, and amputation of fingertips may be necessary if skin ulcers progress to gangrene. Depression affects approximately 45% of patients with systemic sclerosis and 64% also develop anxiety, so early assessment and treatment of these psychological issues is recommended. For pain management, studies have shown that oxycodone is effective and safe for pain due to severe skin ulcers, while topical lidocaine helps reduce pain of digital ulcers in individuals with systemic scleroderma. ` There are also some lifestyle changes and home remedies that may be helpful for some individuals with CREST syndrome. To reduce Raynaud's symptoms, individuals may consider wearing gloves or mittens outdoors when the weather is cool, and indoors when reaching into the freezer, for example. To maintain the body's core temperature, individuals may dress in layers and wear a hat or scarf, thermal socks, and well-fitting boots or shoes that don't cut off the circulation. Individuals who smoke should talk to their doctor about the best ways to quit. Nicotine constricts the blood vessels, making Raynaud's phenomenon worse. Individuals who have difficulty swallowing may consider choosing soft, moist foods and chewing food well. To minimize acid reflux individuals may eat small, frequent meals; avoid spicy or fatty foods, chocolate, caffeine, and alcohol; and avoid exercising immediately before or after eating. Sitting upright for a couple of hours after a meal may also help. To help keep skin soft, individuals may avoid harsh soaps and detergents, while choosing gentle skin cleansers and bath gels with added moisturizers. Individuals may also consider bathing less frequently and taking brief baths and showers, using warm rather than hot water. Moisture levels in the home may be improved by using a humidifier to ease skin and breathing symptoms. For additional information about how CREST syndrome may be treated, the following article from eMedicine may be helpful: http://emedicine.medscape.com/article/1064663-treatment#showall The information provided here is for general educational purposes only. Individuals interested in learning about specific treatment options for themselves or family members should speak with their healthcare provider.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Limited cutaneous systemic sclerosis ? assistant How might CREST syndrome be treated? Unfortunately, CREST syndrome has no known cure. The condition carries both physical and psychological consequences, so a holistic approach to management should be taken. Treatment generally focuses on relieving signs and symptoms and preventing complications. Heartburn may be relieved by antacid medications that reduce the production of stomach acid. Medications that open small blood vessels and increase circulation may help relieve Raynaud's symptoms and reduce increased pressure in the arteries between the heart and lungs. Drugs that suppress the immune system have shown promise in preventing interstitial lung disease (a condition in which excess collagen collects in the tissue between the lungs' air sacs) in some people with CREST syndrome. To prevent loss of mobility, stretching exercises for the finger joints are important. A physical therapist can also show affected individuals some facial exercises that may help keep the face and mouth flexible. If CREST syndrome is making it difficult to perform daily tasks, an occupational therapist can help individuals learn new ways of doing things. For example, special toothbrushes and flossing devices can make it easier to care for the teeth. Surgery may be necessary for some affected individuals. Large or painful calcium deposits sometimes need to be surgically removed, and amputation of fingertips may be necessary if skin ulcers progress to gangrene. Depression affects approximately 45% of patients with systemic sclerosis and 64% also develop anxiety, so early assessment and treatment of these psychological issues is recommended. For pain management, studies have shown that oxycodone is effective and safe for pain due to severe skin ulcers, while topical lidocaine helps reduce pain of digital ulcers in individuals with systemic scleroderma. ` There are also some lifestyle changes and home remedies that may be helpful for some individuals with CREST syndrome. To reduce Raynaud's symptoms, individuals may consider wearing gloves or mittens outdoors when the weather is cool, and indoors when reaching into the freezer, for example. To maintain the body's core temperature, individuals may dress in layers and wear a hat or scarf, thermal socks, and well-fitting boots or shoes that don't cut off the circulation. Individuals who smoke should talk to their doctor about the best ways to quit. Nicotine constricts the blood vessels, making Raynaud's phenomenon worse. Individuals who have difficulty swallowing may consider choosing soft, moist foods and chewing food well. To minimize acid reflux individuals may eat small, frequent meals; avoid spicy or fatty foods, chocolate, caffeine, and alcohol; and avoid exercising immediately before or after eating. Sitting upright for a couple of hours after a meal may also help. To help keep skin soft, individuals may avoid harsh soaps and detergents, while choosing gentle skin cleansers and bath gels with added moisturizers. Individuals may also consider bathing less frequently and taking brief baths and showers, using warm rather than hot water. Moisture levels in the home may be improved by using a humidifier to ease skin and breathing symptoms. For additional information about how CREST syndrome may be treated, the following article from eMedicine may be helpful: http://emedicine.medscape.com/article/1064663-treatment#showall The information provided here is for general educational purposes only. Individuals interested in learning about specific treatment options for themselves or family members should speak with their healthcare provider.
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What is (are) Achondrogenesis type 1A ?
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Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1B may be caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Achondrogenesis type 1A ? assistant Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1B may be caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.
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What are the symptoms of Achondrogenesis type 1A ?
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What are the signs and symptoms of Achondrogenesis type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 1A. 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 bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Brachydactyly syndrome 50% Polyhydramnios 50% Recurrent fractures 50% Short toe 50% Umbilical hernia 50% Cystic hygroma 7.5% Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Broad clavicles - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-trunk short stature - Hypoplasia of the radius - Hypoplastic ischia - Hypoplastic scapulae - Protuberant abdomen - Short clavicles - Short ribs - Stillbirth - Unossified vertebral bodies - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Achondrogenesis type 1A ? assistant What are the signs and symptoms of Achondrogenesis type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 1A. 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 bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Brachydactyly syndrome 50% Polyhydramnios 50% Recurrent fractures 50% Short toe 50% Umbilical hernia 50% Cystic hygroma 7.5% Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Broad clavicles - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-trunk short stature - Hypoplasia of the radius - Hypoplastic ischia - Hypoplastic scapulae - Protuberant abdomen - Short clavicles - Short ribs - Stillbirth - Unossified vertebral bodies - 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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What is (are) Spinocerebellar ataxia autosomal recessive 7 ?
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Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements) and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Spinocerebellar ataxia autosomal recessive 7 ? assistant Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements) and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.
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What are the symptoms of Spinocerebellar ataxia autosomal recessive 7 ?
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What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 7. 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 recessive inheritance - Babinski sign - Cerebellar atrophy - Clumsiness - Diplopia - Dysarthria - Gait ataxia - Hypermetric saccades - Hyperreflexia - Juvenile onset - Limb ataxia - Nystagmus - Postural tremor - Saccadic smooth pursuit - Slow progression - 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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Answer the question truthfully, you are a medical professional.
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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 autosomal recessive 7 ? assistant What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 7. 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 recessive inheritance - Babinski sign - Cerebellar atrophy - Clumsiness - Diplopia - Dysarthria - Gait ataxia - Hypermetric saccades - Hyperreflexia - Juvenile onset - Limb ataxia - Nystagmus - Postural tremor - Saccadic smooth pursuit - Slow progression - 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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What are the symptoms of Upington disease ?
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What are the signs and symptoms of Upington disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Upington 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 femur 90% Exostoses 90% Limitation of joint mobility 90% Multiple enchondromatosis 90% Arthralgia - Arthralgia of the hip - Autosomal dominant inheritance - Broad femoral neck - Flattened femoral head - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Upington disease ? assistant What are the signs and symptoms of Upington disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Upington 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 femur 90% Exostoses 90% Limitation of joint mobility 90% Multiple enchondromatosis 90% Arthralgia - Arthralgia of the hip - Autosomal dominant inheritance - Broad femoral neck - Flattened femoral head - 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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What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblJ ?
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What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblJ? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblJ. 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) Atria septal defect 5% Cerebral atrophy 5% Coarctation of aorta 5% Cryptorchidism 5% Decreased methionine synthase activity 5% Decreased methylcobalamin 5% Gastroesophageal reflux 5% Hypertelorism 5% Pulmonary hypertension 5% Wide intermamillary distance 5% Abnormal posturing - Anemia - Autosomal recessive inheritance - Congenital onset - Decreased adenosylcobalamin - Feeding difficulties - Growth delay - Homocystinuria - Hyperhomocystinemia - Inguinal hernia - Lethargy - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Neutropenia - Tachypnea - Thrombocytopenia - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblJ ? assistant What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblJ? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblJ. 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) Atria septal defect 5% Cerebral atrophy 5% Coarctation of aorta 5% Cryptorchidism 5% Decreased methionine synthase activity 5% Decreased methylcobalamin 5% Gastroesophageal reflux 5% Hypertelorism 5% Pulmonary hypertension 5% Wide intermamillary distance 5% Abnormal posturing - Anemia - Autosomal recessive inheritance - Congenital onset - Decreased adenosylcobalamin - Feeding difficulties - Growth delay - Homocystinuria - Hyperhomocystinemia - Inguinal hernia - Lethargy - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Neutropenia - Tachypnea - Thrombocytopenia - 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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What are the symptoms of Syndactyly-polydactyly-earlobe syndrome ?
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What are the signs and symptoms of Syndactyly-polydactyly-earlobe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly-polydactyly-earlobe 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) Anterior creases of earlobe 90% Postaxial hand polydactyly 50% 1-2 toe complete cutaneous syndactyly - Autosomal dominant inheritance - Bifid distal phalanx of toe - Broad toe - Preaxial foot polydactyly - Preaxial hand polydactyly - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Syndactyly-polydactyly-earlobe syndrome ? assistant What are the signs and symptoms of Syndactyly-polydactyly-earlobe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly-polydactyly-earlobe 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) Anterior creases of earlobe 90% Postaxial hand polydactyly 50% 1-2 toe complete cutaneous syndactyly - Autosomal dominant inheritance - Bifid distal phalanx of toe - Broad toe - Preaxial foot polydactyly - Preaxial hand polydactyly - 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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What is (are) Schistosomiasis ?
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Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims freely in open bodies of water. On contact with humans, the parasite burrows into the skin, matures into another stage (schistosomula), then migrates to the lungs and liver, where it matures into the adult form. The adult worm then migrates to its preferred body part (bladder, rectum, intestines, liver, portal venous system (the veins that carry blood from the intestines to liver, spleen, lungs), depending on its species. Schistosomiasis is common in many tropical and subtropical areas worldwide. It can be treated safely and effectively with praziquantel.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Schistosomiasis ? assistant Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims freely in open bodies of water. On contact with humans, the parasite burrows into the skin, matures into another stage (schistosomula), then migrates to the lungs and liver, where it matures into the adult form. The adult worm then migrates to its preferred body part (bladder, rectum, intestines, liver, portal venous system (the veins that carry blood from the intestines to liver, spleen, lungs), depending on its species. Schistosomiasis is common in many tropical and subtropical areas worldwide. It can be treated safely and effectively with praziquantel.
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What are the symptoms of Schistosomiasis ?
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What are the signs and symptoms of Schistosomiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Schistosomiasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the immune system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Schistosomiasis ? assistant What are the signs and symptoms of Schistosomiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Schistosomiasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the immune system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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How to diagnose Schistosomiasis ?
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How is schistosomiasis diagnosed? Examination of stool and/or urine for ova is the primary method of diagnosis for schistosomiasis. The choice of sample depends on the suspected species, which may be determined by careful review of travel and residence history. The sensitivity of this testing can be limited by the intensity of infection. For best results, three samples should be collected on different days. A blood sample can also be tested for evidence of infection. Blood tests are indicated for travelers or immigrants from endemic areas who have not been treated (or not treated appropriately) in the past. The most common tests detect antibodies to the adult worm. For accurate results, the blood sample tested should be collected at least 6 to 8 weeks after likely infection. Blood testing may not be appropriate for patients who have been repeatedly infected and treated in the past because antibodies can persist despite cure. In these patients, blood testing cannot distinguish between a past or current infection. A specific blood test has been developed for this population (which can detect an active infection based on the presence of schistosomal antigen), but this test is not commercially available in the United States and is currently being studied for its ability to detect mild infections.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Schistosomiasis ? assistant How is schistosomiasis diagnosed? Examination of stool and/or urine for ova is the primary method of diagnosis for schistosomiasis. The choice of sample depends on the suspected species, which may be determined by careful review of travel and residence history. The sensitivity of this testing can be limited by the intensity of infection. For best results, three samples should be collected on different days. A blood sample can also be tested for evidence of infection. Blood tests are indicated for travelers or immigrants from endemic areas who have not been treated (or not treated appropriately) in the past. The most common tests detect antibodies to the adult worm. For accurate results, the blood sample tested should be collected at least 6 to 8 weeks after likely infection. Blood testing may not be appropriate for patients who have been repeatedly infected and treated in the past because antibodies can persist despite cure. In these patients, blood testing cannot distinguish between a past or current infection. A specific blood test has been developed for this population (which can detect an active infection based on the presence of schistosomal antigen), but this test is not commercially available in the United States and is currently being studied for its ability to detect mild infections.
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What are the symptoms of Severe congenital neutropenia autosomal recessive 3 ?
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What are the signs and symptoms of Severe congenital neutropenia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 5% Autosomal recessive inheritance - Infantile onset - Leukemia - Myelodysplasia - Neutropenia - Recurrent bacterial infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Severe congenital neutropenia autosomal recessive 3 ? assistant What are the signs and symptoms of Severe congenital neutropenia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 5% Autosomal recessive inheritance - Infantile onset - Leukemia - Myelodysplasia - Neutropenia - Recurrent bacterial infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What is (are) Prune belly syndrome ?
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Prune belly syndrome, also called Eagle-Barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like"; (2) undescended testicles in males; and (3) urinary tract problems. The incidence of prune belly syndrome (PBS) is 1 in 40,000 births; 95% of cases occur in boys. The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. At one end of the spectrum, the condition may cause severe urogenital and pulmonary problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities that require no treatment other than undescended testicle repair in males. The cause of the condition is unknown.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Prune belly syndrome ? assistant Prune belly syndrome, also called Eagle-Barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like"; (2) undescended testicles in males; and (3) urinary tract problems. The incidence of prune belly syndrome (PBS) is 1 in 40,000 births; 95% of cases occur in boys. The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. At one end of the spectrum, the condition may cause severe urogenital and pulmonary problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities that require no treatment other than undescended testicle repair in males. The cause of the condition is unknown.
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What are the symptoms of Prune belly syndrome ?
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What are the signs and symptoms of Prune belly syndrome? The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. Common symptoms are poorly developed abdominal muscles, undescended testicles in males, and urinary tract problems such as swelling of the kidney, abnormally developed kidneys, and enlarged ureters, bladder, and urethra. Prune belly syndrome may also cause lung, heart, gastrointestinal, and other organ, bone, and muscle damage. The Human Phenotype Ontology provides the following list of signs and symptoms for Prune belly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the lungs 90% Cryptorchidism 90% Decreased fertility 90% Neoplasm of the thymus 90% Vesicoureteral reflux 90% Abnormal immunoglobulin level 50% Abnormality of the ribs 50% Acrocyanosis 50% Chest pain 50% Constipation 50% Diaphragmatic paralysis 50% Mediastinal lymphadenopathy 50% Multicystic kidney dysplasia 50% Oligohydramnios 50% Periorbital edema 50% Recurrent respiratory infections 50% Recurrent urinary tract infections 50% Renal insufficiency 50% Respiratory insufficiency 50% Abnormality of coagulation 7.5% Abnormality of the hip bone 7.5% Abnormality of the pericardium 7.5% Atria septal defect 7.5% Autoimmunity 7.5% Cognitive impairment 7.5% Fatigable weakness 7.5% Feeding difficulties in infancy 7.5% Increased intracranial pressure 7.5% Intestinal malrotation 7.5% Migraine 7.5% Neuroendocrine neoplasm 7.5% Neurological speech impairment 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Ptosis 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Talipes 7.5% Tetralogy of Fallot 7.5% Urogenital fistula 7.5% Urogenital sinus anomaly 7.5% Ventricular septal defect 7.5% Vertebral segmentation defect 7.5% Volvulus 7.5% Abnormality of the skin - Anal atresia - Aplasia of the abdominal wall musculature - Autosomal recessive inheritance - Congenital hip dislocation - Congenital posterior urethral valve - Hydronephrosis - Hydroureter - Pectus carinatum - Prune belly - Talipes equinovarus - Xerostomia - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Prune belly syndrome ? assistant What are the signs and symptoms of Prune belly syndrome? The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. Common symptoms are poorly developed abdominal muscles, undescended testicles in males, and urinary tract problems such as swelling of the kidney, abnormally developed kidneys, and enlarged ureters, bladder, and urethra. Prune belly syndrome may also cause lung, heart, gastrointestinal, and other organ, bone, and muscle damage. The Human Phenotype Ontology provides the following list of signs and symptoms for Prune belly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the lungs 90% Cryptorchidism 90% Decreased fertility 90% Neoplasm of the thymus 90% Vesicoureteral reflux 90% Abnormal immunoglobulin level 50% Abnormality of the ribs 50% Acrocyanosis 50% Chest pain 50% Constipation 50% Diaphragmatic paralysis 50% Mediastinal lymphadenopathy 50% Multicystic kidney dysplasia 50% Oligohydramnios 50% Periorbital edema 50% Recurrent respiratory infections 50% Recurrent urinary tract infections 50% Renal insufficiency 50% Respiratory insufficiency 50% Abnormality of coagulation 7.5% Abnormality of the hip bone 7.5% Abnormality of the pericardium 7.5% Atria septal defect 7.5% Autoimmunity 7.5% Cognitive impairment 7.5% Fatigable weakness 7.5% Feeding difficulties in infancy 7.5% Increased intracranial pressure 7.5% Intestinal malrotation 7.5% Migraine 7.5% Neuroendocrine neoplasm 7.5% Neurological speech impairment 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Ptosis 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Talipes 7.5% Tetralogy of Fallot 7.5% Urogenital fistula 7.5% Urogenital sinus anomaly 7.5% Ventricular septal defect 7.5% Vertebral segmentation defect 7.5% Volvulus 7.5% Abnormality of the skin - Anal atresia - Aplasia of the abdominal wall musculature - Autosomal recessive inheritance - Congenital hip dislocation - Congenital posterior urethral valve - Hydronephrosis - Hydroureter - Pectus carinatum - Prune belly - Talipes equinovarus - Xerostomia - 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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What causes Prune belly syndrome ?
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What causes prune belly syndrome? The underlying cause of prune belly syndrome is unknown. The condition may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Prune belly syndrome ? assistant What causes prune belly syndrome? The underlying cause of prune belly syndrome is unknown. The condition may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it.
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What are the treatments for Prune belly syndrome ?
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How might prune belly syndrome be treated? The initial evaluation of the newborn with prune belly syndrome requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well. Treatment options depend on the child's age, health, medical history, extend of disease, tolerance for certain treatments or procedures, the expected course of the disease, and the parent's and/or guardian's opinions and preferences.[832] In general, surgery may be done to repair abdominal muscle, genital, and bladder problems. Antibiotics may be given to infants to treat or prevent urinary tract infections. Timing of therapy may vary from patient to patient. To learn more about your childs specific treatment options we recommend that you speak to her healthcare provider.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Prune belly syndrome ? assistant How might prune belly syndrome be treated? The initial evaluation of the newborn with prune belly syndrome requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well. Treatment options depend on the child's age, health, medical history, extend of disease, tolerance for certain treatments or procedures, the expected course of the disease, and the parent's and/or guardian's opinions and preferences.[832] In general, surgery may be done to repair abdominal muscle, genital, and bladder problems. Antibiotics may be given to infants to treat or prevent urinary tract infections. Timing of therapy may vary from patient to patient. To learn more about your childs specific treatment options we recommend that you speak to her healthcare provider.
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What are the symptoms of Leber congenital amaurosis 10 ?
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What are the signs and symptoms of Leber congenital amaurosis 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 10. 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) Seizures 2/4 Autosomal recessive inheritance - Hyposmia - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Leber congenital amaurosis 10 ? assistant What are the signs and symptoms of Leber congenital amaurosis 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 10. 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) Seizures 2/4 Autosomal recessive inheritance - Hyposmia - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related ?
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What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Matrilin-3 related. 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 - Bowing of the legs - Disproportionate short-limb short stature - Dysplastic iliac wings - Flat acetabular roof - Hypoplastic pubic bone - Irregular epiphyses - Limited elbow extension - Lumbar hyperlordosis - Metaphyseal spurs - Metaphyseal widening - Micromelia - Narrow iliac wings - Ovoid vertebral bodies - Platyspondyly - Posterior rib cupping - Short long bone - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thoracic hypoplasia - Waddling gait - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related ? assistant What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Matrilin-3 related. 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 - Bowing of the legs - Disproportionate short-limb short stature - Dysplastic iliac wings - Flat acetabular roof - Hypoplastic pubic bone - Irregular epiphyses - Limited elbow extension - Lumbar hyperlordosis - Metaphyseal spurs - Metaphyseal widening - Micromelia - Narrow iliac wings - Ovoid vertebral bodies - Platyspondyly - Posterior rib cupping - Short long bone - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thoracic hypoplasia - Waddling gait - 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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What are the symptoms of Alopecia macular degeneration growth retardation ?
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What are the signs and symptoms of Alopecia macular degeneration growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia macular degeneration growth retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Alopecia macular degeneration growth retardation ? assistant What are the signs and symptoms of Alopecia macular degeneration growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia macular degeneration growth retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - 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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What is (are) Meningioma ?
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Meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if their growth affects the neighboring areas of the brain. Though most meningiomas grow slowly, there is no way to predict the rate of growth for a particular meningioma or to know how long a specific meningioma was growing before it was diagnosed. Signs and symptoms can vary but may include seizures, headaches, weakness in the arms and legs, and vision loss. Sometimes memory loss, carelessness, and unsteadiness are the only symptoms.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Meningioma ? assistant Meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if their growth affects the neighboring areas of the brain. Though most meningiomas grow slowly, there is no way to predict the rate of growth for a particular meningioma or to know how long a specific meningioma was growing before it was diagnosed. Signs and symptoms can vary but may include seizures, headaches, weakness in the arms and legs, and vision loss. Sometimes memory loss, carelessness, and unsteadiness are the only symptoms.
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What are the treatments for Meningioma ?
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How might meningiomas be treated? The treatment varies depending on the location of the meningioma and the symptoms caused by the tumor. Careful observation is sometimes the best course of action for people with a meningioma. When treatment is necessary, surgery and radiation are the most common forms of treatment. Radiation may be used if the meningioma cannot be operated on or if the meningioma is only partially removed by surgery. Radiation may also be used in cases of malignant, atypical, or recurrent tumors. Other treatments that have been tried or are being explored include hydroxyurea, epidermal growth factor receptor inhibitors, platelet-derived growth factor receptor inhibitors, vascular endothelial growth factor inhibitors, immunotherapy to stimulate the immune system, and somatostatin analogs which prevent the release of growth hormones.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Meningioma ? assistant How might meningiomas be treated? The treatment varies depending on the location of the meningioma and the symptoms caused by the tumor. Careful observation is sometimes the best course of action for people with a meningioma. When treatment is necessary, surgery and radiation are the most common forms of treatment. Radiation may be used if the meningioma cannot be operated on or if the meningioma is only partially removed by surgery. Radiation may also be used in cases of malignant, atypical, or recurrent tumors. Other treatments that have been tried or are being explored include hydroxyurea, epidermal growth factor receptor inhibitors, platelet-derived growth factor receptor inhibitors, vascular endothelial growth factor inhibitors, immunotherapy to stimulate the immune system, and somatostatin analogs which prevent the release of growth hormones.
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What is (are) Progressive hemifacial atrophy ?
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Progressive hemifacial atrophy, or Parry-Romberg syndrome, is a condition that causes the breakdown of the skin and soft tissues of half of the face. Symptoms and severity vary from person to person. This condition tends to begin in childhood between the ages of 5 and 15 years, and worsen over the course of 2 to 10 years before stabilizing. In addition to the skin and soft tissues, the deterioration can involve the mouth and tongue, facial bones, eye socket, and eye. Other symptoms may include loss of facial hair, changes in skin color in affected areas, seizures, and episodes of severe facial pain. Treatment may involve reconstructive or microvascular surgery. Currently, the cause of the condition is unknown.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Progressive hemifacial atrophy ? assistant Progressive hemifacial atrophy, or Parry-Romberg syndrome, is a condition that causes the breakdown of the skin and soft tissues of half of the face. Symptoms and severity vary from person to person. This condition tends to begin in childhood between the ages of 5 and 15 years, and worsen over the course of 2 to 10 years before stabilizing. In addition to the skin and soft tissues, the deterioration can involve the mouth and tongue, facial bones, eye socket, and eye. Other symptoms may include loss of facial hair, changes in skin color in affected areas, seizures, and episodes of severe facial pain. Treatment may involve reconstructive or microvascular surgery. Currently, the cause of the condition is unknown.
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What are the symptoms of Progressive hemifacial atrophy ?
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What are the signs and symptoms of Progressive hemifacial atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive hemifacial atrophy. 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) Irregular hyperpigmentation 90% Abnormality of the musculature 50% Aplasia/Hypoplasia of the skin 50% Asymmetric growth 50% Seizures 50% Deeply set eye 7.5% Heterochromia iridis 7.5% Ptosis 7.5% Alopecia areata - Ataxia - Blepharophimosis - Delayed eruption of teeth - Dental malocclusion - Hemifacial atrophy - Horner syndrome - Kyphosis - Microtia - Migraine - Onset - Poliosis - Short mandibular rami - Sporadic - Trigeminal neuralgia - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Progressive hemifacial atrophy ? assistant What are the signs and symptoms of Progressive hemifacial atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive hemifacial atrophy. 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) Irregular hyperpigmentation 90% Abnormality of the musculature 50% Aplasia/Hypoplasia of the skin 50% Asymmetric growth 50% Seizures 50% Deeply set eye 7.5% Heterochromia iridis 7.5% Ptosis 7.5% Alopecia areata - Ataxia - Blepharophimosis - Delayed eruption of teeth - Dental malocclusion - Hemifacial atrophy - Horner syndrome - Kyphosis - Microtia - Migraine - Onset - Poliosis - Short mandibular rami - Sporadic - Trigeminal neuralgia - 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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What are the treatments for Progressive hemifacial atrophy ?
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How might progressive hemifacial atrophy be treated?
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Progressive hemifacial atrophy ? assistant How might progressive hemifacial atrophy be treated?
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What are the symptoms of Hawkinsinuria ?
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What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. 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 hair quantity 90% Fine hair 90% Muscular hypotonia 50% Hypothyroidism 7.5% 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Autosomal dominant inheritance - Failure to thrive - Hypertyrosinemia - Metabolic acidosis - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hawkinsinuria ? assistant What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. 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 hair quantity 90% Fine hair 90% Muscular hypotonia 50% Hypothyroidism 7.5% 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Autosomal dominant inheritance - Failure to thrive - Hypertyrosinemia - Metabolic acidosis - 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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What are the symptoms of Spinocerebellar ataxia 14 ?
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What are the signs and symptoms of Spinocerebellar ataxia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 14. 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) Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Cerebellar atrophy - Depression - Dysarthria - Dysmetria - Dysphagia - Facial myokymia - Focal dystonia - Gait ataxia - Hyperreflexia - Impaired vibration sensation at ankles - Incomplete penetrance - Memory impairment - Mental deterioration - Nystagmus - Progressive cerebellar ataxia - Slow progression - 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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Answer the question truthfully, you are a medical professional.
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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 14 ? assistant What are the signs and symptoms of Spinocerebellar ataxia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 14. 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) Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Cerebellar atrophy - Depression - Dysarthria - Dysmetria - Dysphagia - Facial myokymia - Focal dystonia - Gait ataxia - Hyperreflexia - Impaired vibration sensation at ankles - Incomplete penetrance - Memory impairment - Mental deterioration - Nystagmus - Progressive cerebellar ataxia - Slow progression - 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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What are the symptoms of Spastic paraplegia 17 ?
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What are the signs and symptoms of Spastic paraplegia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Babinski sign - First dorsal interossei muscle atrophy - First dorsal interossei muscle weakness - Hyperreflexia - Impaired vibration sensation in the lower limbs - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Slow progression - Spastic gait - Spastic paraplegia - Thenar muscle atrophy - Thenar muscle weakness - 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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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spastic paraplegia 17 ? assistant What are the signs and symptoms of Spastic paraplegia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Babinski sign - First dorsal interossei muscle atrophy - First dorsal interossei muscle weakness - Hyperreflexia - Impaired vibration sensation in the lower limbs - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Slow progression - Spastic gait - Spastic paraplegia - Thenar muscle atrophy - Thenar muscle weakness - 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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