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Is Glutaric acidemia type I inherited ?
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How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. Carriers of an autosomal recessive condition typically are unaffected and have no signs or symptoms. When two carrier parents have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
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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 Glutaric acidemia type I inherited ? assistant How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. Carriers of an autosomal recessive condition typically are unaffected and have no signs or symptoms. When two carrier parents have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
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How to diagnose Glutaric acidemia type I ?
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Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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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 Glutaric acidemia type I ? assistant Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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What is (are) Pyoderma gangrenosum ?
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Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, polyarthritis (an inflammation of several joints together), gammopathy, and other conditions . Pyoderma gangrenosum belongs to a group of skin diseases in which a common cellular denominator is the neutrophil. Neutrophils are a type of white blood cell or leukocyte which form an early line of defense against bacterial infections. Each year in the United States, pyoderma gangrenosum occurs in about 1 person per 100.000 people.
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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) Pyoderma gangrenosum ? assistant Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, polyarthritis (an inflammation of several joints together), gammopathy, and other conditions . Pyoderma gangrenosum belongs to a group of skin diseases in which a common cellular denominator is the neutrophil. Neutrophils are a type of white blood cell or leukocyte which form an early line of defense against bacterial infections. Each year in the United States, pyoderma gangrenosum occurs in about 1 person per 100.000 people.
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What are the symptoms of Pyoderma gangrenosum ?
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What are the signs and symptoms of Pyoderma gangrenosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyoderma gangrenosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myositis 90% Pulmonary infiltrates 90% Skin rash 90% Skin ulcer 90% Abnormal blistering of the skin 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 Pyoderma gangrenosum ? assistant What are the signs and symptoms of Pyoderma gangrenosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyoderma gangrenosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myositis 90% Pulmonary infiltrates 90% Skin rash 90% Skin ulcer 90% Abnormal blistering of the skin 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 are the treatments for Pyoderma gangrenosum ?
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How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). The best documented treatments for PG are systemic corticosteroids and cyclosporin A. Smaller ulcers may be treated with strong topical steroid creams, steroid injections, special dressings, oral anti-inflammatory antibiotics, and/or other therapies. More severe PG typically requires immunosuppressive therapy (used to decrease the body's immune responses). Combinations of steroids with cytotoxic drugs may be used in resistant cases. There has reportedly been rapid improvement of PG with use of anti-tumor necrosis alpha therapy (such as infliximab), which is also used to treat Crohn's disease and other conditions. Skin transplants and/or the application of bioengineered skin is useful in selected cases as a complementary therapy to immunosuppressive treatment. The use of modern wound dressings is helpful to minimize pain and the risk of secondary infections. Treatment for PG generally does not involve surgery because it can result in enlargement of the ulcer; however, necrotic tissue (dying or dead tissue) should be gently removed. More detailed information about the treatment of pyoderma gangrenosum is available on eMedicine's Web site and can be viewed by clicking here.
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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 Pyoderma gangrenosum ? assistant How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). The best documented treatments for PG are systemic corticosteroids and cyclosporin A. Smaller ulcers may be treated with strong topical steroid creams, steroid injections, special dressings, oral anti-inflammatory antibiotics, and/or other therapies. More severe PG typically requires immunosuppressive therapy (used to decrease the body's immune responses). Combinations of steroids with cytotoxic drugs may be used in resistant cases. There has reportedly been rapid improvement of PG with use of anti-tumor necrosis alpha therapy (such as infliximab), which is also used to treat Crohn's disease and other conditions. Skin transplants and/or the application of bioengineered skin is useful in selected cases as a complementary therapy to immunosuppressive treatment. The use of modern wound dressings is helpful to minimize pain and the risk of secondary infections. Treatment for PG generally does not involve surgery because it can result in enlargement of the ulcer; however, necrotic tissue (dying or dead tissue) should be gently removed. More detailed information about the treatment of pyoderma gangrenosum is available on eMedicine's Web site and can be viewed by clicking here.
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What are the symptoms of Hard skin syndrome Parana type ?
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What are the signs and symptoms of Hard skin syndrome Parana type? The Human Phenotype Ontology provides the following list of signs and symptoms for Hard skin syndrome Parana 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) Generalized hyperpigmentation 90% Limitation of joint mobility 90% Respiratory insufficiency 50% Tapered finger 50% Abnormality of the nipple 7.5% Hyperkeratosis 7.5% Hypertrichosis 7.5% Pectus carinatum 7.5% Round face 7.5% Short stature 7.5% Abnormality of the abdomen - Abnormality of the skin - Autosomal recessive inheritance - Restricted chest movement - Severe postnatal growth retardation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Hard skin syndrome Parana type ? assistant What are the signs and symptoms of Hard skin syndrome Parana type? The Human Phenotype Ontology provides the following list of signs and symptoms for Hard skin syndrome Parana 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) Generalized hyperpigmentation 90% Limitation of joint mobility 90% Respiratory insufficiency 50% Tapered finger 50% Abnormality of the nipple 7.5% Hyperkeratosis 7.5% Hypertrichosis 7.5% Pectus carinatum 7.5% Round face 7.5% Short stature 7.5% Abnormality of the abdomen - Abnormality of the skin - Autosomal recessive inheritance - Restricted chest movement - Severe postnatal growth retardation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Transaldolase deficiency ?
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What are the signs and symptoms of Transaldolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transaldolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Asthma - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Coarctation of aorta - Decreased liver function - Deep philtrum - Depressed nasal bridge - Failure to thrive - Hepatic fibrosis - Hepatomegaly - Hepatosplenomegaly - Low-set ears - Micronodular cirrhosis - Oligohydramnios - Pancytopenia - Patent ductus arteriosus - Patent foramen ovale - Poor suck - Short philtrum - Small for gestational age - Splenomegaly - Synophrys - Telangiectasia - Thin vermilion border - Thrombocytopenia - Triangular face - Ventricular septal defect - Wide anterior fontanel - 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 Transaldolase deficiency ? assistant What are the signs and symptoms of Transaldolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transaldolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Asthma - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Coarctation of aorta - Decreased liver function - Deep philtrum - Depressed nasal bridge - Failure to thrive - Hepatic fibrosis - Hepatomegaly - Hepatosplenomegaly - Low-set ears - Micronodular cirrhosis - Oligohydramnios - Pancytopenia - Patent ductus arteriosus - Patent foramen ovale - Poor suck - Short philtrum - Small for gestational age - Splenomegaly - Synophrys - Telangiectasia - Thin vermilion border - Thrombocytopenia - Triangular face - Ventricular septal defect - Wide anterior fontanel - 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) Benign rolandic epilepsy (BRE) ?
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Benign rolandic epilepsy is the most common form of childhood epilepsy. It is referred to as "benign" because most children outgrow the condition by puberty, usually by 14 years of age. This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. The seizures associated with this condition typically occur during the nighttime. Treatment is usually not prescribed, since the condition tends to disappear by puberty.
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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) Benign rolandic epilepsy (BRE) ? assistant Benign rolandic epilepsy is the most common form of childhood epilepsy. It is referred to as "benign" because most children outgrow the condition by puberty, usually by 14 years of age. This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. The seizures associated with this condition typically occur during the nighttime. Treatment is usually not prescribed, since the condition tends to disappear by puberty.
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What are the symptoms of Benign rolandic epilepsy (BRE) ?
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What are the signs and symptoms of Benign rolandic epilepsy (BRE)? Patients with this syndrome typically present between the ages of 3 and 13 years with nighttime seizures. The episodes usually begin with twitching and stiffness of the face, and often wake up the child. The clonic activity causes a tingling feeling on one side of the mouth involving the tongue, lips, gum and inner side of the cheek. The seizure may also involve the throat which may make speech unclear and difficult to understand. Occasionally, both sides of the body may be affected, which can lead to loss of consciousness causing stiffness and jerking movements of the arms and legs. The child may also be incontinent. After an episode, a child may be sleepy and doze for a few hours. The Human Phenotype Ontology provides the following list of signs and symptoms for Benign rolandic epilepsy (BRE). If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bilateral convulsive seizures - EEG with centrotemporal focal spike waves - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 Benign rolandic epilepsy (BRE) ? assistant What are the signs and symptoms of Benign rolandic epilepsy (BRE)? Patients with this syndrome typically present between the ages of 3 and 13 years with nighttime seizures. The episodes usually begin with twitching and stiffness of the face, and often wake up the child. The clonic activity causes a tingling feeling on one side of the mouth involving the tongue, lips, gum and inner side of the cheek. The seizure may also involve the throat which may make speech unclear and difficult to understand. Occasionally, both sides of the body may be affected, which can lead to loss of consciousness causing stiffness and jerking movements of the arms and legs. The child may also be incontinent. After an episode, a child may be sleepy and doze for a few hours. The Human Phenotype Ontology provides the following list of signs and symptoms for Benign rolandic epilepsy (BRE). If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bilateral convulsive seizures - EEG with centrotemporal focal spike waves - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What causes Benign rolandic epilepsy (BRE) ?
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What causes benign rolandic epilepsy? Benign rolandic epilepsy is a genetic syndrome with an autosomal dominant mode of inheritance. Although the gene associated with the condition has not been identified, Neubauer et al. (1998) found evidence of linkage to chromosome 15q. Juvenile myoclonic epilepsy has been mapped to the same region.
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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 Benign rolandic epilepsy (BRE) ? assistant What causes benign rolandic epilepsy? Benign rolandic epilepsy is a genetic syndrome with an autosomal dominant mode of inheritance. Although the gene associated with the condition has not been identified, Neubauer et al. (1998) found evidence of linkage to chromosome 15q. Juvenile myoclonic epilepsy has been mapped to the same region.
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What are the treatments for Benign rolandic epilepsy (BRE) ?
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What treatment is available for benign rolandic epilepsy? Although treatment is usually not necessary since the episodes are infrequent and are typically outgrown by puberty, anticonvulsants such as carbamazepine.
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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 Benign rolandic epilepsy (BRE) ? assistant What treatment is available for benign rolandic epilepsy? Although treatment is usually not necessary since the episodes are infrequent and are typically outgrown by puberty, anticonvulsants such as carbamazepine.
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What is (are) Situs inversus ?
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Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have 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: What is (are) Situs inversus ? assistant Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported.
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What are the symptoms of Situs inversus ?
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What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. Many affected people have no associated health issues when the condition is isolated. When situs inversus occurs in association with other conditions such as Kartagener syndrome or primary ciliary dyskinesia, additional signs and symptoms relating to these conditions will be present.
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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 Situs inversus ? assistant What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. Many affected people have no associated health issues when the condition is isolated. When situs inversus occurs in association with other conditions such as Kartagener syndrome or primary ciliary dyskinesia, additional signs and symptoms relating to these conditions will be present.
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Is Situs inversus inherited ?
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Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different genetic factors or genes may cause the condition among different people or families. If situs inversus is associated with another underlying syndrome or condition, the inheritance pattern may be the same as that of the underlying condition. People with questions about genetic risks to themselves or family members are encouraged to speak with a genetics professional.
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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 Situs inversus inherited ? assistant Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different genetic factors or genes may cause the condition among different people or families. If situs inversus is associated with another underlying syndrome or condition, the inheritance pattern may be the same as that of the underlying condition. People with questions about genetic risks to themselves or family members are encouraged to speak with a genetics professional.
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How to diagnose Situs inversus ?
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How is situs inversus diagnosed? A thorough physical examination, followed by radiographic imaging of the chest and abdomen and electrocardiography, identify most cases of situs inversus. The main diagnostic challenge in affected people is the non-traditional presence of referred pain (pain felt in a different location than its source).
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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 Situs inversus ? assistant How is situs inversus diagnosed? A thorough physical examination, followed by radiographic imaging of the chest and abdomen and electrocardiography, identify most cases of situs inversus. The main diagnostic challenge in affected people is the non-traditional presence of referred pain (pain felt in a different location than its source).
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What are the treatments for Situs inversus ?
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How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen. Wearing medical identification can help ensure proper treatment in an emergency medical situation.
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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 Situs inversus ? assistant How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen. Wearing medical identification can help ensure proper treatment in an emergency medical situation.
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What are the symptoms of Amyloidosis corneal ?
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What are the signs and symptoms of Amyloidosis corneal? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis corneal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Blurred vision - Childhood onset - Corneal dystrophy - Photophobia - Reduced visual acuity - 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 Amyloidosis corneal ? assistant What are the signs and symptoms of Amyloidosis corneal? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis corneal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Blurred vision - Childhood onset - Corneal dystrophy - Photophobia - Reduced visual acuity - 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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How to diagnose Amyloidosis corneal ?
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Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. To view the contact information for the clinical laboratories, conducting testing for lattice dystrophy type 1 and 3a click here. To access the contact information for the research laboratories performing genetic testing for lattice dystrophy type 3 click here.
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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 Amyloidosis corneal ? assistant Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. To view the contact information for the clinical laboratories, conducting testing for lattice dystrophy type 1 and 3a click here. To access the contact information for the research laboratories performing genetic testing for lattice dystrophy type 3 click here.
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What is (are) Pyle disease ?
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Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. Only about 30 cases have been reported in the literature. Cranial involvement is minimal with some showing mild hyperostosis (excessive new bone formation ) of the skull base and thickening of the frontal and occipital bones. Pyle disease is passed through families in an autosomal recessive manner.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Pyle disease ? assistant Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. Only about 30 cases have been reported in the literature. Cranial involvement is minimal with some showing mild hyperostosis (excessive new bone formation ) of the skull base and thickening of the frontal and occipital bones. Pyle disease is passed through families in an autosomal recessive manner.
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What are the symptoms of Pyle disease ?
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What are the signs and symptoms of Pyle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyle 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) Genu valgum 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Craniofacial hyperostosis 50% Mandibular prognathia 50% Prominent supraorbital ridges 50% Recurrent fractures 50% Scoliosis 50% Abnormal form of the vertebral bodies 7.5% Carious teeth 7.5% Dental malocclusion 7.5% Abnormality of the thorax - Arthralgia - Autosomal recessive inheritance - Limited elbow extension - Metaphyseal dysplasia - Muscle weakness - Platyspondyly - Thickened calvaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Pyle disease ? assistant What are the signs and symptoms of Pyle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyle 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) Genu valgum 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Craniofacial hyperostosis 50% Mandibular prognathia 50% Prominent supraorbital ridges 50% Recurrent fractures 50% Scoliosis 50% Abnormal form of the vertebral bodies 7.5% Carious teeth 7.5% Dental malocclusion 7.5% Abnormality of the thorax - Arthralgia - Autosomal recessive inheritance - Limited elbow extension - Metaphyseal dysplasia - Muscle weakness - Platyspondyly - Thickened calvaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Pyle disease inherited ?
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Is Pyle disease inherited? Pyle disease in inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they often don't have any signs and symptoms of the condition. Some carriers (obligate heterozygotes) of Pyle disease show minor skeletal changes.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Pyle disease inherited ? assistant Is Pyle disease inherited? Pyle disease in inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they often don't have any signs and symptoms of the condition. Some carriers (obligate heterozygotes) of Pyle disease show minor skeletal changes.
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What is (are) Trisomy 17 mosaicism ?
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Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature. Few cases of trisomy 17 mosaicism have been described, most having been detected during pregnancy through a test called amniocentesis. Only a few individuals have had a confirmed diagnosis of trisomy 17 mosaicism after birth. Because the proportion and location of cells with trisomy 17 differs from case to case, the presence and severity of signs and symptoms may vary significantly from person to 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) Trisomy 17 mosaicism ? assistant Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature. Few cases of trisomy 17 mosaicism have been described, most having been detected during pregnancy through a test called amniocentesis. Only a few individuals have had a confirmed diagnosis of trisomy 17 mosaicism after birth. Because the proportion and location of cells with trisomy 17 differs from case to case, the presence and severity of signs and symptoms may vary significantly from person to person.
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What causes Trisomy 17 mosaicism ?
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What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, the fetus may initially have had only two copies of chromosome 17, but due to errors in cell division some of the cells end up with an extra copy of chromosome 17. Either of these two scenarios result in trisomy 17 mosaicism. To read more about trisomy mosaicism, visit the following links from the Medical Genetics Department at the University of British Columbia in Canada. What is mosaicism? How does trisomy mosaicism occur?
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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 17 mosaicism ? assistant What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, the fetus may initially have had only two copies of chromosome 17, but due to errors in cell division some of the cells end up with an extra copy of chromosome 17. Either of these two scenarios result in trisomy 17 mosaicism. To read more about trisomy mosaicism, visit the following links from the Medical Genetics Department at the University of British Columbia in Canada. What is mosaicism? How does trisomy mosaicism occur?
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What are the symptoms of Macular dystrophy, atypical vitelliform ?
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What are the signs and symptoms of Macular dystrophy, atypical vitelliform? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, atypical vitelliform. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced visual acuity 5% Visual field defect 5% Visual impairment 5% Autosomal dominant inheritance - Late onset - Macular dystrophy - Vitelliform-like macular lesions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Macular dystrophy, atypical vitelliform ? assistant What are the signs and symptoms of Macular dystrophy, atypical vitelliform? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, atypical vitelliform. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced visual acuity 5% Visual field defect 5% Visual impairment 5% Autosomal dominant inheritance - Late onset - Macular dystrophy - Vitelliform-like macular lesions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ?
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What are the signs and symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acidosis - Aminoaciduria - Autosomal recessive inheritance - Intellectual disability - Muscular dystrophy - Osteoporosis - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ? assistant What are the signs and symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acidosis - Aminoaciduria - Autosomal recessive inheritance - Intellectual disability - Muscular dystrophy - Osteoporosis - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Der Kaloustian Mcintosh Silver syndrome ?
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What are the signs and symptoms of Der Kaloustian Mcintosh Silver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Der Kaloustian Mcintosh Silver 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 dermatoglyphics 90% Abnormal nasal morphology 90% Abnormality of the palate 90% Abnormality of the pinna 90% Cognitive impairment 90% Dolichocephaly 90% Gait disturbance 90% Hearing abnormality 90% Macrocephaly 90% Muscular hypotonia 90% Narrow face 90% Neurological speech impairment 90% Pectus excavatum 90% Prominent nasal bridge 90% Radioulnar synostosis 90% Strabismus 90% Carious teeth 50% Multicystic kidney dysplasia 50% Autosomal recessive inheritance - Dislocated radial head - Generalized hypotonia - Long face - Prominent nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Der Kaloustian Mcintosh Silver syndrome ? assistant What are the signs and symptoms of Der Kaloustian Mcintosh Silver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Der Kaloustian Mcintosh Silver 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 dermatoglyphics 90% Abnormal nasal morphology 90% Abnormality of the palate 90% Abnormality of the pinna 90% Cognitive impairment 90% Dolichocephaly 90% Gait disturbance 90% Hearing abnormality 90% Macrocephaly 90% Muscular hypotonia 90% Narrow face 90% Neurological speech impairment 90% Pectus excavatum 90% Prominent nasal bridge 90% Radioulnar synostosis 90% Strabismus 90% Carious teeth 50% Multicystic kidney dysplasia 50% Autosomal recessive inheritance - Dislocated radial head - Generalized hypotonia - Long face - Prominent nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 X-linked lymphoproliferative syndrome 2 ?
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What are the signs and symptoms of X-linked lymphoproliferative syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Fever 9/10 Splenomegaly 9/10 Hepatitis 8/9 Hypertriglyceridemia 7/8 Hypofibrinogenemia 7/8 Increased serum ferritin 7/8 Hemophagocytosis 4/9 Decreased antibody level in blood - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 X-linked lymphoproliferative syndrome 2 ? assistant What are the signs and symptoms of X-linked lymphoproliferative syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Fever 9/10 Splenomegaly 9/10 Hepatitis 8/9 Hypertriglyceridemia 7/8 Hypofibrinogenemia 7/8 Increased serum ferritin 7/8 Hemophagocytosis 4/9 Decreased antibody level in blood - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Ausems Wittebol-Post Hennekam syndrome ?
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What are the signs and symptoms of Ausems Wittebol-Post Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ausems Wittebol-Post Hennekam 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) Non-midline cleft lip 90% Abnormality of retinal pigmentation 50% Visual impairment 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 Ausems Wittebol-Post Hennekam syndrome ? assistant What are the signs and symptoms of Ausems Wittebol-Post Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ausems Wittebol-Post Hennekam 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) Non-midline cleft lip 90% Abnormality of retinal pigmentation 50% Visual impairment 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 are the symptoms of Ring chromosome 8 ?
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What are the signs and symptoms of Ring chromosome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 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 palate 90% Abnormality of the ureter 90% Anteverted nares 90% Cognitive impairment 90% Deviation of finger 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Low posterior hairline 90% Polyhydramnios 90% Round ear 90% Short nose 90% Sloping forehead 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 Ring chromosome 8 ? assistant What are the signs and symptoms of Ring chromosome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 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 palate 90% Abnormality of the ureter 90% Anteverted nares 90% Cognitive impairment 90% Deviation of finger 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Low posterior hairline 90% Polyhydramnios 90% Round ear 90% Short nose 90% Sloping forehead 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 Torticollis, familial ?
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What are the signs and symptoms of Torticollis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Torticollis, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Facial asymmetry - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Torticollis, familial ? assistant What are the signs and symptoms of Torticollis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Torticollis, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Facial asymmetry - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Langer mesomelic dysplasia ?
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What are the signs and symptoms of Langer mesomelic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Langer mesomelic 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 epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the fibula 90% Abnormality of the palate 90% Madelung deformity 90% Micromelia 90% Short stature 90% Ulnar deviation of finger 90% Autosomal recessive inheritance - Broad ulna - Hypoplasia of the radius - Hypoplasia of the ulna - Lumbar hyperlordosis - Mesomelia - Mesomelic short stature - Radial bowing - Rudimentary fibula - Short femoral neck - Shortening of the 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 Langer mesomelic dysplasia ? assistant What are the signs and symptoms of Langer mesomelic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Langer mesomelic 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 epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the fibula 90% Abnormality of the palate 90% Madelung deformity 90% Micromelia 90% Short stature 90% Ulnar deviation of finger 90% Autosomal recessive inheritance - Broad ulna - Hypoplasia of the radius - Hypoplasia of the ulna - Lumbar hyperlordosis - Mesomelia - Mesomelic short stature - Radial bowing - Rudimentary fibula - Short femoral neck - Shortening of the 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 Onychodystrophy-anonychia ?
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What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Tapered distal phalanges of finger 5% Anonychia - Autosomal dominant inheritance - Congenital hip dislocation - Nail dysplasia - Nail dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Onychodystrophy-anonychia ? assistant What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Tapered distal phalanges of finger 5% Anonychia - Autosomal dominant inheritance - Congenital hip dislocation - Nail dysplasia - Nail dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Relapsing polychondritis ?
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Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feature, but a variety of other areas of the body may be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown; however, scientists suspect that it is an autoimmune condition. The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage.
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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) Relapsing polychondritis ? assistant Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feature, but a variety of other areas of the body may be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown; however, scientists suspect that it is an autoimmune condition. The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage.
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What are the symptoms of Relapsing polychondritis ?
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What are the signs and symptoms of Relapsing polychondritis? Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. The features of the condition and the severity of symptoms vary significantly from person to person, but may include: Ear: The ears are the most commonly affected body part. Symptoms include a sudden onset of pain, swelling, and tenderness of the cartilage of one or both ears. The pinna usually loses firmness and becomes floppy; hearing impairment may also occur. Inflammation of the inner ear may also cause nausea, vomiting, dizziness, and/or ataxia. Joint: The second most common finding is joint pain with or without arthritis. Eye: Affected people may experience episcleritis, uveitis and/or scleritis. Scleritis may lead to a bluish or dark discoloration of the sclera (white of the eye) and may even be associated with vision loss in severe cases. Proptosis (bulging out of one or both eye balls) may also be a symptom of RP. Nose: Nasal cartilage inflammation may lead to stuffiness, crusting, rhinorrhea, epistaxis (nose bleeds), compromised sense of smell and/or saddle nose deformity (a condition where the nose is weakened and thus "saddled" in the middle). Airways: Inflammation may affect the larynx, trachea (windpipe), and bronchi (tubes that branch off the trachea and carry air to the lungs). Airway involvement may lead to a cough, wheezing, hoarseness and recurrent infections. It can become life-threatening if not properly diagnosed and managed. Less commonly, RP may affect the heart, kidneys, nervous system, gastrointestinal tract, and/or vascular (veins) system. Nonspecific symptoms such as fever, weight loss, malaise, and fatigue may also be present. In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological disease (including Hodgkin's lymphoma and myelodysplastic syndromes); gastrointestinal disorders (including Crohn's disease and ulcerative colitis); endocrine diseases (including diabetes mellitus type 1 and thyroid disorders) and others. Episodes of RP may last a few days or weeks and typically resolve with or without treatment. However, it is generally progressive, and many people have persistent symptoms in between flares. The Human Phenotype Ontology provides the following list of signs and symptoms for Relapsing polychondritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 nose 90% Arthralgia 90% Arthritis 90% Chondritis 90% Chondritis of pinna 90% External ear malformation 90% Abnormality of temperature regulation 50% Abnormality of the aortic valve 50% Abnormality of the pericardium 50% Abnormality of the voice 50% Aneurysm 50% Autoimmunity 50% Cartilage destruction 50% Cataract 50% Dilatation of the ascending aorta 50% Inflammatory abnormality of the eye 50% Limitation of joint mobility 50% Osteolysis 50% Periorbital edema 50% Proptosis 50% Sinusitis 50% Vasculitis 50% Vertigo 50% Abnormality of the endocardium 7.5% Abnormality of the liver 7.5% Abnormality of the mitral valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Arrhythmia 7.5% Arterial thrombosis 7.5% Conductive hearing impairment 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Encephalitis 7.5% Gangrene 7.5% Glomerulopathy 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Incoordination 7.5% Laryngomalacia 7.5% Myelodysplasia 7.5% Proteinuria 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Skin ulcer 7.5% Subcutaneous hemorrhage 7.5% Thrombophlebitis 7.5% Tinnitus 7.5% Tracheal stenosis 7.5% Tracheomalacia 7.5% Urticaria 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 Relapsing polychondritis ? assistant What are the signs and symptoms of Relapsing polychondritis? Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. The features of the condition and the severity of symptoms vary significantly from person to person, but may include: Ear: The ears are the most commonly affected body part. Symptoms include a sudden onset of pain, swelling, and tenderness of the cartilage of one or both ears. The pinna usually loses firmness and becomes floppy; hearing impairment may also occur. Inflammation of the inner ear may also cause nausea, vomiting, dizziness, and/or ataxia. Joint: The second most common finding is joint pain with or without arthritis. Eye: Affected people may experience episcleritis, uveitis and/or scleritis. Scleritis may lead to a bluish or dark discoloration of the sclera (white of the eye) and may even be associated with vision loss in severe cases. Proptosis (bulging out of one or both eye balls) may also be a symptom of RP. Nose: Nasal cartilage inflammation may lead to stuffiness, crusting, rhinorrhea, epistaxis (nose bleeds), compromised sense of smell and/or saddle nose deformity (a condition where the nose is weakened and thus "saddled" in the middle). Airways: Inflammation may affect the larynx, trachea (windpipe), and bronchi (tubes that branch off the trachea and carry air to the lungs). Airway involvement may lead to a cough, wheezing, hoarseness and recurrent infections. It can become life-threatening if not properly diagnosed and managed. Less commonly, RP may affect the heart, kidneys, nervous system, gastrointestinal tract, and/or vascular (veins) system. Nonspecific symptoms such as fever, weight loss, malaise, and fatigue may also be present. In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological disease (including Hodgkin's lymphoma and myelodysplastic syndromes); gastrointestinal disorders (including Crohn's disease and ulcerative colitis); endocrine diseases (including diabetes mellitus type 1 and thyroid disorders) and others. Episodes of RP may last a few days or weeks and typically resolve with or without treatment. However, it is generally progressive, and many people have persistent symptoms in between flares. The Human Phenotype Ontology provides the following list of signs and symptoms for Relapsing polychondritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 nose 90% Arthralgia 90% Arthritis 90% Chondritis 90% Chondritis of pinna 90% External ear malformation 90% Abnormality of temperature regulation 50% Abnormality of the aortic valve 50% Abnormality of the pericardium 50% Abnormality of the voice 50% Aneurysm 50% Autoimmunity 50% Cartilage destruction 50% Cataract 50% Dilatation of the ascending aorta 50% Inflammatory abnormality of the eye 50% Limitation of joint mobility 50% Osteolysis 50% Periorbital edema 50% Proptosis 50% Sinusitis 50% Vasculitis 50% Vertigo 50% Abnormality of the endocardium 7.5% Abnormality of the liver 7.5% Abnormality of the mitral valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Arrhythmia 7.5% Arterial thrombosis 7.5% Conductive hearing impairment 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Encephalitis 7.5% Gangrene 7.5% Glomerulopathy 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Incoordination 7.5% Laryngomalacia 7.5% Myelodysplasia 7.5% Proteinuria 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Skin ulcer 7.5% Subcutaneous hemorrhage 7.5% Thrombophlebitis 7.5% Tinnitus 7.5% Tracheal stenosis 7.5% Tracheomalacia 7.5% Urticaria 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 Relapsing polychondritis ?
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What causes relapsing polychondritis? The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues. In general, autoimmune conditions are complex traits that are associated with the effects of multiple genes in combination with lifestyle and environmental factors. There is also evidence to suggest that some people may be born with a genetic susceptibility to RP. Studies have found that people with RP are roughly twice as likely as those without this condition to carry a certain genetic allele called HLA-DR4. "HLA" stands for human leukocyte antigen, which is an important part of our immune system and plays a role in resistance and predisposition (risk) to disease. However, HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk. Thus, many people with HLA-DR4 will never develop RP.
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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 Relapsing polychondritis ? assistant What causes relapsing polychondritis? The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues. In general, autoimmune conditions are complex traits that are associated with the effects of multiple genes in combination with lifestyle and environmental factors. There is also evidence to suggest that some people may be born with a genetic susceptibility to RP. Studies have found that people with RP are roughly twice as likely as those without this condition to carry a certain genetic allele called HLA-DR4. "HLA" stands for human leukocyte antigen, which is an important part of our immune system and plays a role in resistance and predisposition (risk) to disease. However, HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk. Thus, many people with HLA-DR4 will never develop RP.
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Is Relapsing polychondritis inherited ?
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Is relapsing polychondritis inherited? Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives. Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors. In general, having a first degree relative (for example a parent, child, or sibling) with an autoimmune condition may increase your personal risk for developing an autoimmune condition. Unfortunately, no specific risk estimates are available for relapsing polychondritis.
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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 Relapsing polychondritis inherited ? assistant Is relapsing polychondritis inherited? Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives. Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors. In general, having a first degree relative (for example a parent, child, or sibling) with an autoimmune condition may increase your personal risk for developing an autoimmune condition. Unfortunately, no specific risk estimates are available for relapsing polychondritis.
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How to diagnose Relapsing polychondritis ?
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How is relapsing polychondritis diagnosed? There are no tests available that are specific for relapsing polychondritis (RP). A diagnosis is, therefore, generally based on the presence of characteristic signs and symptoms. For example, people may be diagnosed as having RP if they have three or more of the following features: Inflammation of the cartilage of both ears Seronegative (negative for rheumatoid factor) polyarthritis (arthritis that involves 5 or more joints simultaneously) Inflammation of the cartilage of the nose Eye inflammation (conjunctivitis, episcleritis, scleritis, and/or uveitis) Inflammation of the cartilage of the airway Vestibular dysfunction (i.e. vertigo, hearing loss, tinnitus) In some cases, a biopsy of affected tissue may be necessary to support the diagnosis.
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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 Relapsing polychondritis ? assistant How is relapsing polychondritis diagnosed? There are no tests available that are specific for relapsing polychondritis (RP). A diagnosis is, therefore, generally based on the presence of characteristic signs and symptoms. For example, people may be diagnosed as having RP if they have three or more of the following features: Inflammation of the cartilage of both ears Seronegative (negative for rheumatoid factor) polyarthritis (arthritis that involves 5 or more joints simultaneously) Inflammation of the cartilage of the nose Eye inflammation (conjunctivitis, episcleritis, scleritis, and/or uveitis) Inflammation of the cartilage of the airway Vestibular dysfunction (i.e. vertigo, hearing loss, tinnitus) In some cases, a biopsy of affected tissue may be necessary to support the diagnosis.
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What are the treatments for Relapsing polychondritis ?
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How might relapsing polychondritis be treated? The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses. Higher doses are generally given during flares, while lower doses can typically be prescribed during periods of remission. Other medications reported to control symptoms include dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine and infliximab. People who develop severe heart or respiratory complications may require surgery. More detailed information about the management of RP is available on Medscape Reference's Web site and can be viewed by clicking here.
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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 Relapsing polychondritis ? assistant How might relapsing polychondritis be treated? The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses. Higher doses are generally given during flares, while lower doses can typically be prescribed during periods of remission. Other medications reported to control symptoms include dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine and infliximab. People who develop severe heart or respiratory complications may require surgery. More detailed information about the management of RP is available on Medscape Reference's Web site and can be viewed by clicking here.
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What is (are) Mandibulofacial dysostosis with microcephaly ?
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Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature. MFDM is caused by mutations in the EFTUD2 gene and is inherited in an autosomal dominant 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) Mandibulofacial dysostosis with microcephaly ? assistant Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature. MFDM is caused by mutations in the EFTUD2 gene and is inherited in an autosomal dominant manner.
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What are the symptoms of Mandibulofacial dysostosis with microcephaly ?
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What are the signs and symptoms of Mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) may affect multiple parts of the body but primarily affects the head and face. People with MFDM are usually born with a small head (microcephaly) which does not grow at the same rate as the body. Intellectual disability ranges from mild to severe and is present in almost all affected people. Speech and language problems are also common. Facial abnormalities in affected people may include underdevelopment (hypoplasia) of the midface and cheekbones; a small lower jaw (micrognathia); small and malformed ears; facial asymmetry; and cleft palate. Other head and facial features may include a metopic ridge; up- or downslanting palpebral fissures; a prominent glabella (space between the eyebrows); a broad nasal bridge; a bulbous nasal tip; and an everted lower lip. Abnormalities of the ear canal, ear bones, or inner ear often lead to hearing loss. Affected people can also have a blockage of the nasal passages (choanal atresia) that can cause respiratory problems. Other signs and symptoms in some people with MFDM may include esophageal atresia, congenital heart defects, thumb anomalies, and/or short stature. The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibulofacial dysostosis with microcephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 antihelix 90% Abnormality of the tragus 90% Cleft palate 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Microcephaly 90% Neurological speech impairment 90% Preauricular skin tag 90% Short nose 90% Short stature 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Atresia of the external auditory canal 50% Epicanthus 50% Large earlobe 50% Overfolded helix 50% Preaxial hand polydactyly 50% Telecanthus 50% Trismus 50% Atria septal defect 7.5% Proximal placement of thumb 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Ventricular septal defect 7.5% Esophageal atresia 5% Anteverted nares - Autosomal dominant inheritance - Autosomal recessive inheritance - Choanal atresia - Conductive hearing impairment - Deep philtrum - Delayed speech and language development - Feeding difficulties in infancy - Hypoplasia of midface - Low-set ears - Mandibulofacial dysostosis - Microtia - Respiratory difficulties - Slender finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Mandibulofacial dysostosis with microcephaly ? assistant What are the signs and symptoms of Mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) may affect multiple parts of the body but primarily affects the head and face. People with MFDM are usually born with a small head (microcephaly) which does not grow at the same rate as the body. Intellectual disability ranges from mild to severe and is present in almost all affected people. Speech and language problems are also common. Facial abnormalities in affected people may include underdevelopment (hypoplasia) of the midface and cheekbones; a small lower jaw (micrognathia); small and malformed ears; facial asymmetry; and cleft palate. Other head and facial features may include a metopic ridge; up- or downslanting palpebral fissures; a prominent glabella (space between the eyebrows); a broad nasal bridge; a bulbous nasal tip; and an everted lower lip. Abnormalities of the ear canal, ear bones, or inner ear often lead to hearing loss. Affected people can also have a blockage of the nasal passages (choanal atresia) that can cause respiratory problems. Other signs and symptoms in some people with MFDM may include esophageal atresia, congenital heart defects, thumb anomalies, and/or short stature. The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibulofacial dysostosis with microcephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 antihelix 90% Abnormality of the tragus 90% Cleft palate 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Microcephaly 90% Neurological speech impairment 90% Preauricular skin tag 90% Short nose 90% Short stature 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Atresia of the external auditory canal 50% Epicanthus 50% Large earlobe 50% Overfolded helix 50% Preaxial hand polydactyly 50% Telecanthus 50% Trismus 50% Atria septal defect 7.5% Proximal placement of thumb 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Ventricular septal defect 7.5% Esophageal atresia 5% Anteverted nares - Autosomal dominant inheritance - Autosomal recessive inheritance - Choanal atresia - Conductive hearing impairment - Deep philtrum - Delayed speech and language development - Feeding difficulties in infancy - Hypoplasia of midface - Low-set ears - Mandibulofacial dysostosis - Microtia - Respiratory difficulties - Slender finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Mandibulofacial dysostosis with microcephaly ?
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What causes mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint for making proteins. Mutations in EFTUD2 impair the production or function of the enzyme from the gene, which impairs the processing of mRNA. However, at this time, it is not clear how this process causes the specific symptoms of MFDM.
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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 Mandibulofacial dysostosis with microcephaly ? assistant What causes mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint for making proteins. Mutations in EFTUD2 impair the production or function of the enzyme from the gene, which impairs the processing of mRNA. However, at this time, it is not clear how this process causes the specific symptoms of MFDM.
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Is Mandibulofacial dysostosis with microcephaly inherited ?
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How is mandibulofacial dysostosis with microcephaly inherited? Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most cases of MFDM are due to new mutations that occur for the first time in the affected person (called de novo mutations), and are not inherited from a parent. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes, an unaffected parent has the mutation only in some or all of their sperm or egg cells (not their body cells), which is known as germline mosaicism.
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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 Mandibulofacial dysostosis with microcephaly inherited ? assistant How is mandibulofacial dysostosis with microcephaly inherited? Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most cases of MFDM are due to new mutations that occur for the first time in the affected person (called de novo mutations), and are not inherited from a parent. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes, an unaffected parent has the mutation only in some or all of their sperm or egg cells (not their body cells), which is known as germline mosaicism.
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How to diagnose Mandibulofacial dysostosis with microcephaly ?
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Is genetic testing available for mandibulofacial dysostosis with microcephaly? Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. One is sequence analysis of the EFTUD2 gene to identify a mutation (which detects ~91% of affected people), and the other is deletion analysis (which detects ~9%), for people in whom sequencing does not detect a mutation. When a diagnosis of MFDM is strongly suspected but genetic testing is inconclusive, a clinical diagnosis may still be appropriate. However, given the high sensitivity of genetic testing for this condition, other disorders with overlapping features should first be carefully considered. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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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 Mandibulofacial dysostosis with microcephaly ? assistant Is genetic testing available for mandibulofacial dysostosis with microcephaly? Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. One is sequence analysis of the EFTUD2 gene to identify a mutation (which detects ~91% of affected people), and the other is deletion analysis (which detects ~9%), for people in whom sequencing does not detect a mutation. When a diagnosis of MFDM is strongly suspected but genetic testing is inconclusive, a clinical diagnosis may still be appropriate. However, given the high sensitivity of genetic testing for this condition, other disorders with overlapping features should first be carefully considered. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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What are the treatments for Mandibulofacial dysostosis with microcephaly ?
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How might mandibulofacial dysostosis with microcephaly be treated? Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. Treatment of hearing loss is individualized, and may involve conventional hearing aids, bone-anchored hearing aid, and/or cochlear implants. Occupational, physical, and/or speech/language therapies are involved as needed to optimize developmental outcome. Additional treatment information is available on 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 Mandibulofacial dysostosis with microcephaly ? assistant How might mandibulofacial dysostosis with microcephaly be treated? Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. Treatment of hearing loss is individualized, and may involve conventional hearing aids, bone-anchored hearing aid, and/or cochlear implants. Occupational, physical, and/or speech/language therapies are involved as needed to optimize developmental outcome. Additional treatment information is available on GeneReviews' Web site.
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What are the symptoms of Limb-girdle muscular dystrophy type 2H ?
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What are the signs and symptoms of Limb-girdle muscular dystrophy type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Gait disturbance 90% Mask-like facies 90% Myopathy 90% Tall stature 50% Areflexia - Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Centrally nucleated skeletal muscle fibers - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Exercise-induced myalgia - Facial palsy - Gowers sign - Hyporeflexia - Increased variability in muscle fiber diameter - Muscular dystrophy - Neck flexor weakness - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Phenotypic variability - Quadriceps muscle weakness - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Slow progression - 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 Limb-girdle muscular dystrophy type 2H ? assistant What are the signs and symptoms of Limb-girdle muscular dystrophy type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Gait disturbance 90% Mask-like facies 90% Myopathy 90% Tall stature 50% Areflexia - Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Centrally nucleated skeletal muscle fibers - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Exercise-induced myalgia - Facial palsy - Gowers sign - Hyporeflexia - Increased variability in muscle fiber diameter - Muscular dystrophy - Neck flexor weakness - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Phenotypic variability - Quadriceps muscle weakness - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Slow progression - 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 Chronic myeloid leukemia ?
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What are the signs and symptoms of Chronic myeloid leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic myelogenous leukemia - Ph-positive acute lymphoblastic leukemia - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Chronic myeloid leukemia ? assistant What are the signs and symptoms of Chronic myeloid leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic myelogenous leukemia - Ph-positive acute lymphoblastic leukemia - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) WAGR syndrome ?
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WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.
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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) WAGR syndrome ? assistant WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.
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What are the symptoms of WAGR syndrome ?
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What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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) Aniridia 90% Aplasia/Hypoplasia of the iris 90% Cognitive impairment 90% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hearing abnormality 50% Hypospadias 50% Intellectual disability 50% Microcephaly 50% Nephroblastoma (Wilms tumor) 50% Nystagmus 50% Ptosis 50% Short stature 50% Visual impairment 50% Nephropathy 40% Abnormality of the vagina 33% Streak ovary 33% Abnormality of the uterus 7.5% Glaucoma 7.5% Gonadoblastoma 7.5% Hernia of the abdominal wall 7.5% Obesity 7.5% Scoliosis 7.5% Renal insufficiency 10/46 Autosomal dominant inheritance - Contiguous gene syndrome - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 WAGR syndrome ? assistant What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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) Aniridia 90% Aplasia/Hypoplasia of the iris 90% Cognitive impairment 90% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hearing abnormality 50% Hypospadias 50% Intellectual disability 50% Microcephaly 50% Nephroblastoma (Wilms tumor) 50% Nystagmus 50% Ptosis 50% Short stature 50% Visual impairment 50% Nephropathy 40% Abnormality of the vagina 33% Streak ovary 33% Abnormality of the uterus 7.5% Glaucoma 7.5% Gonadoblastoma 7.5% Hernia of the abdominal wall 7.5% Obesity 7.5% Scoliosis 7.5% Renal insufficiency 10/46 Autosomal dominant inheritance - Contiguous gene syndrome - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Oculocutaneous albinism type 2 ?
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Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal 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) Oculocutaneous albinism type 2 ? assistant Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion.
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What are the symptoms of Oculocutaneous albinism type 2 ?
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What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ocular albinism 90% Freckling 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Melanoma 7.5% Neoplasm of the skin 7.5% Strabismus 7.5% Albinism - Autosomal recessive inheritance - Blue irides - Freckles in sun-exposed areas - Hypopigmentation of the fundus - Hypoplasia of the fovea - Red hair - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Oculocutaneous albinism type 2 ? assistant What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ocular albinism 90% Freckling 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Melanoma 7.5% Neoplasm of the skin 7.5% Strabismus 7.5% Albinism - Autosomal recessive inheritance - Blue irides - Freckles in sun-exposed areas - Hypopigmentation of the fundus - Hypoplasia of the fovea - Red hair - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Chiari malformation type 1 ?
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Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem. Normally, only the spinal cord passes through this opening. This malformation is the most common type of Chiari malformation and may not cause any symptoms. Depending on the symptoms present and severity, some individuals may not require treatment while others may require pain medications or surgery.
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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) Chiari malformation type 1 ? assistant Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem. Normally, only the spinal cord passes through this opening. This malformation is the most common type of Chiari malformation and may not cause any symptoms. Depending on the symptoms present and severity, some individuals may not require treatment while others may require pain medications or surgery.
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What are the symptoms of Chiari malformation type 1 ?
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What are the signs and symptoms of Chiari malformation type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Chiari malformation type 1 ? assistant What are the signs and symptoms of Chiari malformation type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Chiari malformation type 1 ?
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What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformation type 1 is acquired after birth. Causes of acquired Chiari malformation type 1 involve the excessive draining of spinal fluid from the lumbar or thoracic areas of the spine as a result of injury, exposure to harmful substances, or infection. Click here to view a diagram of the spine.
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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 Chiari malformation type 1 ? assistant What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformation type 1 is acquired after birth. Causes of acquired Chiari malformation type 1 involve the excessive draining of spinal fluid from the lumbar or thoracic areas of the spine as a result of injury, exposure to harmful substances, or infection. Click here to view a diagram of the spine.
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What are the treatments for Chiari malformation type 1 ?
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How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medications, muscle relaxants, and the occasional use of a soft collar. Individuals with more severe symptoms may be in need of surgery. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. The goals of surgical treatment are decompression of the point where the skull meets the spine (the cervicomedullary junction) and restoration of normal flow of cerebrospinal fluid in the region of the foramen magnum (the hole in the bottom of the skull where the spinal cord passes to connect to the brain). Prognosis after surgery for the condition is generally good and typically depends on the extent of neurological deficits that were present before the surgery. Most individuals have a reduction of symptoms and/or prolonged periods of relative stability. More than one surgery may be needed to treat the 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 are the treatments for Chiari malformation type 1 ? assistant How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medications, muscle relaxants, and the occasional use of a soft collar. Individuals with more severe symptoms may be in need of surgery. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. The goals of surgical treatment are decompression of the point where the skull meets the spine (the cervicomedullary junction) and restoration of normal flow of cerebrospinal fluid in the region of the foramen magnum (the hole in the bottom of the skull where the spinal cord passes to connect to the brain). Prognosis after surgery for the condition is generally good and typically depends on the extent of neurological deficits that were present before the surgery. Most individuals have a reduction of symptoms and/or prolonged periods of relative stability. More than one surgery may be needed to treat the condition.
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What is (are) Neonatal intrahepatic cholestasis caused by citrin deficiency ?
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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
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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) Neonatal intrahepatic cholestasis caused by citrin deficiency ? assistant Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
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What are the symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency ?
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What are the signs and symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency? Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, decreased coagulation factors, hemolytic anemia, hepatomegaly, variable liver dysfunction, and/or hypoglycemia in children younger than one year of age. NICCD is generally not severe, and symptoms typically disappear by age one year with appropriate treatment. At around age two, children with NICCD begin to show a particular fondness for protein-rich and fatty foods and an aversion to sugary and carbohydrate-rich foods. One of more decades later, some of these individuals develop neuropsychiatric symptoms characteristic of adult-onset citrullinemia type II. The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal intrahepatic cholestasis caused by citrin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cirrhosis - Elevated plasma citrulline - Failure to thrive - Growth delay - Hyperbilirubinemia - Hypercholesterolemia - Hypermethioninemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Intrahepatic cholestasis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Neonatal intrahepatic cholestasis caused by citrin deficiency ? assistant What are the signs and symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency? Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, decreased coagulation factors, hemolytic anemia, hepatomegaly, variable liver dysfunction, and/or hypoglycemia in children younger than one year of age. NICCD is generally not severe, and symptoms typically disappear by age one year with appropriate treatment. At around age two, children with NICCD begin to show a particular fondness for protein-rich and fatty foods and an aversion to sugary and carbohydrate-rich foods. One of more decades later, some of these individuals develop neuropsychiatric symptoms characteristic of adult-onset citrullinemia type II. The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal intrahepatic cholestasis caused by citrin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cirrhosis - Elevated plasma citrulline - Failure to thrive - Growth delay - Hyperbilirubinemia - Hypercholesterolemia - Hypermethioninemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Intrahepatic cholestasis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Autosomal dominant nocturnal frontal lobe epilepsy ?
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Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. Signs and symptoms include seizures that usually occur at night during sleep. The seizures that occur in people with ADNFLE can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep to severe, dramatic muscle spasm events. Some people with ADNFLE also have seizures during the day. Some episodes may be misdiagnosed as nightmares, night terrors, or panic attacks. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In many cases, the genetic cause remains unknown. Seizures can usually be controlled with antiseizure 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) Autosomal dominant nocturnal frontal lobe epilepsy ? assistant Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. Signs and symptoms include seizures that usually occur at night during sleep. The seizures that occur in people with ADNFLE can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep to severe, dramatic muscle spasm events. Some people with ADNFLE also have seizures during the day. Some episodes may be misdiagnosed as nightmares, night terrors, or panic attacks. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In many cases, the genetic cause remains unknown. Seizures can usually be controlled with antiseizure medications.
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What are the symptoms of Autosomal dominant nocturnal frontal lobe epilepsy ?
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What are the signs and symptoms of Autosomal dominant nocturnal frontal lobe epilepsy? The seizures that occur in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) usually occur at night while sleeping, but some affected people also have seizures during the day. The seizures tend to occur in clusters, with each one lasting from a few seconds to a few minutes. In some people, seizures are mild and only cause a person to wake from sleep. In others, severe episodes can cause sudden, dramatic muscle spasms, wandering around, and/or crying out or making other sounds. Episodes of seizures tend to become less frequent and more mild as an affected person ages. Some people with ADNFLE experience aura, which may cause neurological symptoms such as tingling, shivering, a sense of fear, dizziness, and/or a feeling of falling or being pushed. Feelings of breathlessness, hyperventilation, and choking have also been reported. Most people with ADNFLE are intellectually normal. Psychiatric disorders, behavioral problems and intellectual disability have been described in some people with ADNFLE, but it is unclear if these features are directly related to the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant nocturnal frontal lobe epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 5% Autosomal dominant inheritance - Behavioral abnormality - Focal seizures - Incomplete penetrance - Juvenile onset - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Autosomal dominant nocturnal frontal lobe epilepsy ? assistant What are the signs and symptoms of Autosomal dominant nocturnal frontal lobe epilepsy? The seizures that occur in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) usually occur at night while sleeping, but some affected people also have seizures during the day. The seizures tend to occur in clusters, with each one lasting from a few seconds to a few minutes. In some people, seizures are mild and only cause a person to wake from sleep. In others, severe episodes can cause sudden, dramatic muscle spasms, wandering around, and/or crying out or making other sounds. Episodes of seizures tend to become less frequent and more mild as an affected person ages. Some people with ADNFLE experience aura, which may cause neurological symptoms such as tingling, shivering, a sense of fear, dizziness, and/or a feeling of falling or being pushed. Feelings of breathlessness, hyperventilation, and choking have also been reported. Most people with ADNFLE are intellectually normal. Psychiatric disorders, behavioral problems and intellectual disability have been described in some people with ADNFLE, but it is unclear if these features are directly related to the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant nocturnal frontal lobe epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 5% Autosomal dominant inheritance - Behavioral abnormality - Focal seizures - Incomplete penetrance - Juvenile onset - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Autosomal dominant nocturnal frontal lobe epilepsy ?
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How is autosomal dominant nocturnal frontal lobe epilepsy diagnosed? The diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made on clinical grounds. The key to diagnosis is a detailed history from the affected person, as well as witnesses. Sometimes video-EEG monitoring is necessary. The features that are suggestive of a diagnosis of ADNFLE are: clusters of seizures with a frontal semiology seizures that occur predominantly during sleep normal clinical neurologic exam normal intellect (although reduced intellect, cognitive deficits, or psychiatric disorders may occur) normal findings on neuroimaging ictal EEG (recorded during a seizure) that may be normal or obscured by movement of the cables or electrodes interictal EEG (recorded in between seizures) that shows infrequent epileptiform discharges (distinctive patterns resembling those that occur in people with epilepsy) the presence of the same disorder in other family members, with evidence of autosomal dominant inheritance The diagnosis can be established in a person with the above features, combined with a positive family history and/or genetic testing that detects a mutation in one of the genes known to cause ADNFLE. People who are concerned they may be having seizures or other neurological signs or symptoms should be evaluated by a neurologist.
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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 Autosomal dominant nocturnal frontal lobe epilepsy ? assistant How is autosomal dominant nocturnal frontal lobe epilepsy diagnosed? The diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made on clinical grounds. The key to diagnosis is a detailed history from the affected person, as well as witnesses. Sometimes video-EEG monitoring is necessary. The features that are suggestive of a diagnosis of ADNFLE are: clusters of seizures with a frontal semiology seizures that occur predominantly during sleep normal clinical neurologic exam normal intellect (although reduced intellect, cognitive deficits, or psychiatric disorders may occur) normal findings on neuroimaging ictal EEG (recorded during a seizure) that may be normal or obscured by movement of the cables or electrodes interictal EEG (recorded in between seizures) that shows infrequent epileptiform discharges (distinctive patterns resembling those that occur in people with epilepsy) the presence of the same disorder in other family members, with evidence of autosomal dominant inheritance The diagnosis can be established in a person with the above features, combined with a positive family history and/or genetic testing that detects a mutation in one of the genes known to cause ADNFLE. People who are concerned they may be having seizures or other neurological signs or symptoms should be evaluated by a neurologist.
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What are the symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus ?
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What are the signs and symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 cerebellum 90% Dandy-Walker malformation 90% Dolichocephaly 90% Frontal bossing 90% Hydrocephalus 90% Hypertelorism 90% Optic atrophy 90% Cognitive impairment 50% Strabismus 50% Autosomal dominant inheritance - Posterior fossa cyst - Sagittal craniosynostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus ? assistant What are the signs and symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 cerebellum 90% Dandy-Walker malformation 90% Dolichocephaly 90% Frontal bossing 90% Hydrocephalus 90% Hypertelorism 90% Optic atrophy 90% Cognitive impairment 50% Strabismus 50% Autosomal dominant inheritance - Posterior fossa cyst - Sagittal craniosynostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Ectrodactyly polydactyly ?
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What are the signs and symptoms of Ectrodactyly polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly 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) Postaxial hand polydactyly 90% Split hand 90% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Finger syndactyly 50% Symphalangism affecting the phalanges of the hand 50% Autosomal recessive inheritance - Split foot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Ectrodactyly polydactyly ? assistant What are the signs and symptoms of Ectrodactyly polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly 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) Postaxial hand polydactyly 90% Split hand 90% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Finger syndactyly 50% Symphalangism affecting the phalanges of the hand 50% Autosomal recessive inheritance - Split foot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Schisis association ?
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What are the signs and symptoms of Schisis association? The Human Phenotype Ontology provides the following list of signs and symptoms for Schisis association. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anencephaly 90% Cleft palate 90% Non-midline cleft lip 90% Omphalocele 90% Congenital diaphragmatic hernia 50% Encephalocele 50% Spina bifida 50% Microcephaly 7.5% Micromelia 7.5% Renal hypoplasia/aplasia 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 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 Schisis association ? assistant What are the signs and symptoms of Schisis association? The Human Phenotype Ontology provides the following list of signs and symptoms for Schisis association. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anencephaly 90% Cleft palate 90% Non-midline cleft lip 90% Omphalocele 90% Congenital diaphragmatic hernia 50% Encephalocele 50% Spina bifida 50% Microcephaly 7.5% Micromelia 7.5% Renal hypoplasia/aplasia 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 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 symptoms of Congenital intrauterine infection-like syndrome ?
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What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 Congenital intrauterine infection-like syndrome ? assistant What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Focal facial dermal dysplasia ?
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What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal 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 facial shape 90% Abnormality of the eye 90% Abnormality of the musculature 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Irregular hyperpigmentation 90% Abnormality of the eyebrow 50% Abnormality of the mouth 50% Depressed nasal bridge 50% Palpebral edema 50% Pointed chin 50% Autosomal dominant inheritance - Decreased subcutaneous fat - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Focal facial dermal dysplasia ? assistant What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal 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 facial shape 90% Abnormality of the eye 90% Abnormality of the musculature 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Irregular hyperpigmentation 90% Abnormality of the eyebrow 50% Abnormality of the mouth 50% Depressed nasal bridge 50% Palpebral edema 50% Pointed chin 50% Autosomal dominant inheritance - Decreased subcutaneous fat - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Henoch-Schonlein purpura ?
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Henoch-Schonlein purpura (HSP) is a disease that involves purple spots on the skin (purpura), joint pain, digestive problems, and glomerulonephritis (a type of kidney disorder). While the cause of this condition is not fully understood, it may develop as an immune response to an infection. HSP is usually seen in children, but it may affect people of any age. Most cases go away on their own without treatment. For those cases which require treatment, the main goal is to relieve symptoms such as joint pain, abdominal pain, or swelling. In many cases, over-the-counter medicines can be used. In some patients with severe arthritis, prednisone, a steroid medicine, may be prescribed.
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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) Henoch-Schonlein purpura ? assistant Henoch-Schonlein purpura (HSP) is a disease that involves purple spots on the skin (purpura), joint pain, digestive problems, and glomerulonephritis (a type of kidney disorder). While the cause of this condition is not fully understood, it may develop as an immune response to an infection. HSP is usually seen in children, but it may affect people of any age. Most cases go away on their own without treatment. For those cases which require treatment, the main goal is to relieve symptoms such as joint pain, abdominal pain, or swelling. In many cases, over-the-counter medicines can be used. In some patients with severe arthritis, prednisone, a steroid medicine, may be prescribed.
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What are the symptoms of Henoch-Schonlein purpura ?
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What are the signs and symptoms of Henoch-Schonlein purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Henoch-Schonlein purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Arthralgia 90% Bruising susceptibility 90% Gastrointestinal infarctions 90% Hematuria 90% Nausea and vomiting 90% Pustule 90% Skin rash 90% Vasculitis 90% Abnormal tendon morphology 50% Abnormality of temperature regulation 50% Anorexia 50% Arthritis 50% Encephalitis 50% Migraine 50% Myalgia 50% Orchitis 50% Skin ulcer 50% Edema 7.5% Gastrointestinal hemorrhage 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Inflammatory abnormality of the eye 7.5% Muscle weakness 7.5% Optic atrophy 7.5% Proteinuria 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Seizures 7.5% Urticaria 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 Henoch-Schonlein purpura ? assistant What are the signs and symptoms of Henoch-Schonlein purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Henoch-Schonlein purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Arthralgia 90% Bruising susceptibility 90% Gastrointestinal infarctions 90% Hematuria 90% Nausea and vomiting 90% Pustule 90% Skin rash 90% Vasculitis 90% Abnormal tendon morphology 50% Abnormality of temperature regulation 50% Anorexia 50% Arthritis 50% Encephalitis 50% Migraine 50% Myalgia 50% Orchitis 50% Skin ulcer 50% Edema 7.5% Gastrointestinal hemorrhage 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Inflammatory abnormality of the eye 7.5% Muscle weakness 7.5% Optic atrophy 7.5% Proteinuria 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Seizures 7.5% Urticaria 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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Is Henoch-Schonlein purpura inherited ?
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Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown. Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases. Only a few families with multiple relatives affected by HSP have been reported in the medical literature. The association between particular genes and a slight increase in the chance of developing HSP has not been proven.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Henoch-Schonlein purpura inherited ? assistant Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown. Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases. Only a few families with multiple relatives affected by HSP have been reported in the medical literature. The association between particular genes and a slight increase in the chance of developing HSP has not been proven.
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What are the treatments for Henoch-Schonlein purpura ?
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What treatments are available for Henoch-Schonlein purpura? Unfortunately, there is no cure for Henoch-Schonlein purpura (HSP). Treatments aim to relieve the symptoms of this condition. For example, non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids (such as prednisone) may be used to relieve pain. If the kidneys are severely affected in an individual with HSP, immunosuppressive medications, such as cyclophosphamide, may be prescribed. In rare cases, individuals with HSP may need to be hospitalized if they experience severe abdominal pain, bleeding from the digestive tract, or kidney problems.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Henoch-Schonlein purpura ? assistant What treatments are available for Henoch-Schonlein purpura? Unfortunately, there is no cure for Henoch-Schonlein purpura (HSP). Treatments aim to relieve the symptoms of this condition. For example, non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids (such as prednisone) may be used to relieve pain. If the kidneys are severely affected in an individual with HSP, immunosuppressive medications, such as cyclophosphamide, may be prescribed. In rare cases, individuals with HSP may need to be hospitalized if they experience severe abdominal pain, bleeding from the digestive tract, or kidney problems.
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What are the symptoms of Follicle-stimulating hormone deficiency, isolated ?
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What are the signs and symptoms of Follicle-stimulating hormone deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Follicle-stimulating hormone deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased muscle mass 5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Decreased testicular size - Delayed skeletal maturation - Infertility - Primary amenorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Follicle-stimulating hormone deficiency, isolated ? assistant What are the signs and symptoms of Follicle-stimulating hormone deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Follicle-stimulating hormone deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased muscle mass 5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Decreased testicular size - Delayed skeletal maturation - Infertility - Primary amenorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Ulcerative proctitis ?
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Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the symptoms worsen and periods without symptoms, although the course of the disease varies among affected individuals. Treatment involves applying 5-aminosalicylic acid (5-ASA) or steroid creams to the rectum. In some cases, an oral version of 5-ASA is used to prevent episodes.
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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) Ulcerative proctitis ? assistant Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the symptoms worsen and periods without symptoms, although the course of the disease varies among affected individuals. Treatment involves applying 5-aminosalicylic acid (5-ASA) or steroid creams to the rectum. In some cases, an oral version of 5-ASA is used to prevent episodes.
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What is (are) Common variable immunodeficiency ?
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Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but have been found in children as young as age two. While in most cases the cause of CVID is unknown, it has been associated with changes (mutations) in at least 10 genes. About 10% of cases are due to mutations in the TNFRSF13B gene. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent 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: What is (are) Common variable immunodeficiency ? assistant Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but have been found in children as young as age two. While in most cases the cause of CVID is unknown, it has been associated with changes (mutations) in at least 10 genes. About 10% of cases are due to mutations in the TNFRSF13B gene. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent infections.
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What are the symptoms of Common variable immunodeficiency ?
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What are the signs and symptoms of Common variable immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Common variable immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased antibody level in blood 90% Lymphopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sinusitis 90% Thrombocytopenia 90% Abnormality of the bronchi 50% Elevated hepatic transaminases 50% Hemolytic anemia 50% Lymphadenopathy 50% Malabsorption 50% Splenomegaly 50% Subcutaneous hemorrhage 50% Arthralgia 7.5% Emphysema 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the stomach 7.5% Restrictive lung disease 7.5% Vasculitis 7.5% Autoimmune neutropenia 5% Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Diarrhea - Hepatomegaly - IgA deficiency - IgG deficiency - IgM deficiency - Immunodeficiency - Impaired T cell function - Recurrent bacterial infections - Recurrent bronchitis - Recurrent otitis media - Recurrent pneumonia - Recurrent sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Common variable immunodeficiency ? assistant What are the signs and symptoms of Common variable immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Common variable immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased antibody level in blood 90% Lymphopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sinusitis 90% Thrombocytopenia 90% Abnormality of the bronchi 50% Elevated hepatic transaminases 50% Hemolytic anemia 50% Lymphadenopathy 50% Malabsorption 50% Splenomegaly 50% Subcutaneous hemorrhage 50% Arthralgia 7.5% Emphysema 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the stomach 7.5% Restrictive lung disease 7.5% Vasculitis 7.5% Autoimmune neutropenia 5% Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Diarrhea - Hepatomegaly - IgA deficiency - IgG deficiency - IgM deficiency - Immunodeficiency - Impaired T cell function - Recurrent bacterial infections - Recurrent bronchitis - Recurrent otitis media - Recurrent pneumonia - Recurrent sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Common variable immunodeficiency ?
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What causes common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in the development and function of immune system cells (B cells) which help protect against infection. B cells make proteins called antibodies (also known as immunoglobulins), which attach to foreign agents and "mark" them to be destroyed. Mutations in genes associated with CVID result in B cells that don't make enough antibodies. This causes difficulty fighting infections, causing the signs and symptoms of CVID. Mutations in at least 10 genes have been associated with CVID. About 10% of affected people have mutations in the TNFRSF13B gene. However, not all people who inherit a mutation associated with CVID develop the disease. This is why additional genetic and/or environmental factors are probably needed for the disorder to occur. While CVID usually occurs in people with no family history of the condition, some cases are inherited in an autosomal dominant or 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 causes Common variable immunodeficiency ? assistant What causes common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in the development and function of immune system cells (B cells) which help protect against infection. B cells make proteins called antibodies (also known as immunoglobulins), which attach to foreign agents and "mark" them to be destroyed. Mutations in genes associated with CVID result in B cells that don't make enough antibodies. This causes difficulty fighting infections, causing the signs and symptoms of CVID. Mutations in at least 10 genes have been associated with CVID. About 10% of affected people have mutations in the TNFRSF13B gene. However, not all people who inherit a mutation associated with CVID develop the disease. This is why additional genetic and/or environmental factors are probably needed for the disorder to occur. While CVID usually occurs in people with no family history of the condition, some cases are inherited in an autosomal dominant or autosomal recessive manner.
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What are the treatments for Common variable immunodeficiency ?
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How might common variable immunodeficiency be treated? The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored during therapy. Ig therapy is effective in most people, leading to less frequent infections and arthritic symptoms. However, gastrointestinal (digestive) symptoms have little improvement with IVIG. In some people wwith CVID and severe autoimmune disease, steroids or other immunosuppressive drugs in addition to Ig therapy may be needed. Detailed information about the management of CVID can be viewed on Medscape Reference's 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 Common variable immunodeficiency ? assistant How might common variable immunodeficiency be treated? The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored during therapy. Ig therapy is effective in most people, leading to less frequent infections and arthritic symptoms. However, gastrointestinal (digestive) symptoms have little improvement with IVIG. In some people wwith CVID and severe autoimmune disease, steroids or other immunosuppressive drugs in addition to Ig therapy may be needed. Detailed information about the management of CVID can be viewed on Medscape Reference's Web site.
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What are the symptoms of Mannosidosis, beta A, lysosomal ?
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What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 facial shape 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Hearing impairment 90% Recurrent respiratory infections 90% Seizures 90% Demyelinating peripheral neuropathy 5% Abnormality of metabolism/homeostasis - Aggressive behavior - Angiokeratoma - Autosomal recessive inheritance - Hyperactivity - Increased urinary disaccharide excretion - Intellectual disability - Muscular hypotonia - Neurological speech impairment - Tortuosity of conjunctival vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Mannosidosis, beta A, lysosomal ? assistant What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 facial shape 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Hearing impairment 90% Recurrent respiratory infections 90% Seizures 90% Demyelinating peripheral neuropathy 5% Abnormality of metabolism/homeostasis - Aggressive behavior - Angiokeratoma - Autosomal recessive inheritance - Hyperactivity - Increased urinary disaccharide excretion - Intellectual disability - Muscular hypotonia - Neurological speech impairment - Tortuosity of conjunctival vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 SLC4A1-associated distal renal tubular acidosis ?
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What are the signs and symptoms of SLC4A1-associated distal renal tubular acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for SLC4A1-associated distal renal tubular acidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Autosomal recessive inheritance - Distal renal tubular acidosis - Failure to thrive - Hypocalcemia - Metabolic acidosis - Nephrocalcinosis - Osteomalacia - Pathologic fracture - Periodic hypokalemic paresis - Periodic paralysis - Postnatal growth retardation - Renal tubular acidosis - Rickets - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 SLC4A1-associated distal renal tubular acidosis ? assistant What are the signs and symptoms of SLC4A1-associated distal renal tubular acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for SLC4A1-associated distal renal tubular acidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Autosomal recessive inheritance - Distal renal tubular acidosis - Failure to thrive - Hypocalcemia - Metabolic acidosis - Nephrocalcinosis - Osteomalacia - Pathologic fracture - Periodic hypokalemic paresis - Periodic paralysis - Postnatal growth retardation - Renal tubular acidosis - Rickets - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Lenz Majewski hyperostotic dwarfism ?
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What are the signs and symptoms of Lenz Majewski hyperostotic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz Majewski hyperostotic dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 cortical bone morphology 90% Abnormality of dental enamel 90% Abnormality of the clavicle 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Broad forehead 90% Choanal atresia 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Cutis laxa 90% Delayed skeletal maturation 90% Finger syndactyly 90% Hypertelorism 90% Increased bone mineral density 90% Joint hypermobility 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Prematurely aged appearance 90% Short stature 90% Symphalangism affecting the phalanges of the hand 90% Abnormality of the metacarpal bones 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hernia of the abdominal wall 50% Humeroradial synostosis 50% Lacrimation abnormality 50% Thick lower lip vermilion 50% Wide mouth 50% Abnormality of the fingernails 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Facial palsy 7.5% Hydrocephalus 7.5% Kyphosis 7.5% Limitation of joint mobility 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Microcephaly 5% Abnormality of the teeth - Agenesis of corpus callosum - Anteriorly placed anus - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Broad clavicles - Broad ribs - Choanal stenosis - Chordee - Cutis marmorata - Delayed cranial suture closure - Diaphyseal thickening - Elbow flexion contracture - Failure to thrive - Flared metaphysis - Frontal bossing - Hyperextensibility of the finger joints - Hypospadias - Inguinal hernia - Intellectual disability - Intellectual disability, moderate - Intrauterine growth retardation - Knee flexion contracture - Lacrimal duct stenosis - Large fontanelles - Microglossia - Progressive sclerosis of skull base - Prominent forehead - Prominent scalp veins - Proximal symphalangism (hands) - Relative macrocephaly - Sensorineural hearing impairment - Sparse hair - Sporadic - Syndactyly - Thin skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 Lenz Majewski hyperostotic dwarfism ? assistant What are the signs and symptoms of Lenz Majewski hyperostotic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz Majewski hyperostotic dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 cortical bone morphology 90% Abnormality of dental enamel 90% Abnormality of the clavicle 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Broad forehead 90% Choanal atresia 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Cutis laxa 90% Delayed skeletal maturation 90% Finger syndactyly 90% Hypertelorism 90% Increased bone mineral density 90% Joint hypermobility 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Prematurely aged appearance 90% Short stature 90% Symphalangism affecting the phalanges of the hand 90% Abnormality of the metacarpal bones 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hernia of the abdominal wall 50% Humeroradial synostosis 50% Lacrimation abnormality 50% Thick lower lip vermilion 50% Wide mouth 50% Abnormality of the fingernails 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Facial palsy 7.5% Hydrocephalus 7.5% Kyphosis 7.5% Limitation of joint mobility 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Microcephaly 5% Abnormality of the teeth - Agenesis of corpus callosum - Anteriorly placed anus - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Broad clavicles - Broad ribs - Choanal stenosis - Chordee - Cutis marmorata - Delayed cranial suture closure - Diaphyseal thickening - Elbow flexion contracture - Failure to thrive - Flared metaphysis - Frontal bossing - Hyperextensibility of the finger joints - Hypospadias - Inguinal hernia - Intellectual disability - Intellectual disability, moderate - Intrauterine growth retardation - Knee flexion contracture - Lacrimal duct stenosis - Large fontanelles - Microglossia - Progressive sclerosis of skull base - Prominent forehead - Prominent scalp veins - Proximal symphalangism (hands) - Relative macrocephaly - Sensorineural hearing impairment - Sparse hair - Sporadic - Syndactyly - Thin skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What is (are) Familial hyperinsulinism ?
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Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern.
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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) Familial hyperinsulinism ? assistant Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern.
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What are the symptoms of Familial hyperinsulinism ?
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What are the signs and symptoms of Familial hyperinsulinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 pancreas 90% Hyperinsulinemia 90% Hypoglycemia 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Heterogeneous - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual disability - Large for gestational age - Pancreatic islet-cell hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 Familial hyperinsulinism ? assistant What are the signs and symptoms of Familial hyperinsulinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 pancreas 90% Hyperinsulinemia 90% Hypoglycemia 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Heterogeneous - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual disability - Large for gestational age - Pancreatic islet-cell hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What is (are) Septo-optic dysplasia ?
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Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. Although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. Viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. Thus far, three genes (HESX1, OTX2, and SOX2) have been associated with septo-optic dysplasia. Typically, people do not have a family history of septo-optic dysplasia. However, there have been a few cases in which multiple family members have been diagnosed. Familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance.
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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) Septo-optic dysplasia ? assistant Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. Although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. Viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. Thus far, three genes (HESX1, OTX2, and SOX2) have been associated with septo-optic dysplasia. Typically, people do not have a family history of septo-optic dysplasia. However, there have been a few cases in which multiple family members have been diagnosed. Familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance.
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What are the symptoms of Septo-optic dysplasia ?
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What are the signs and symptoms of Septo-optic dysplasia? Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slow growth, unusually short stature, low blood sugar, genital abnormalities and problems with sexual development. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with septo-optic dysplasia have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Septo-optic 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) Optic atrophy 90% Septo-optic dysplasia 90% Visual impairment 90% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Cleft palate 50% Cryptorchidism 50% Hemiplegia/hemiparesis 50% Hypoplasia of penis 50% Nystagmus 50% Seizures 50% Short stature 50% Strabismus 50% Abnormal renal physiology 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Autism 7.5% Cognitive impairment 7.5% Constipation 7.5% Diabetes insipidus 7.5% Dry skin 7.5% Hypohidrosis 7.5% Maternal diabetes 7.5% Obesity 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Tracheoesophageal fistula 7.5% Absent septum pellucidum - Agenesis of corpus callosum - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Autosomal recessive inheritance - Growth hormone deficiency - Optic disc hypoplasia - Optic nerve hypoplasia - Phenotypic variability - Polydactyly - Short finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Septo-optic dysplasia ? assistant What are the signs and symptoms of Septo-optic dysplasia? Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slow growth, unusually short stature, low blood sugar, genital abnormalities and problems with sexual development. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with septo-optic dysplasia have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Septo-optic 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) Optic atrophy 90% Septo-optic dysplasia 90% Visual impairment 90% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Cleft palate 50% Cryptorchidism 50% Hemiplegia/hemiparesis 50% Hypoplasia of penis 50% Nystagmus 50% Seizures 50% Short stature 50% Strabismus 50% Abnormal renal physiology 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Autism 7.5% Cognitive impairment 7.5% Constipation 7.5% Diabetes insipidus 7.5% Dry skin 7.5% Hypohidrosis 7.5% Maternal diabetes 7.5% Obesity 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Tracheoesophageal fistula 7.5% Absent septum pellucidum - Agenesis of corpus callosum - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Autosomal recessive inheritance - Growth hormone deficiency - Optic disc hypoplasia - Optic nerve hypoplasia - Phenotypic variability - Polydactyly - Short finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Septo-optic dysplasia ?
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What causes septo-optic dysplasia? In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development. At least three genes have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia. Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.
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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 Septo-optic dysplasia ? assistant What causes septo-optic dysplasia? In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development. At least three genes have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia. Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.
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Is Septo-optic dysplasia inherited ?
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Is septo-optic dysplasia inherited?
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Septo-optic dysplasia inherited ? assistant Is septo-optic dysplasia inherited?
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What are the treatments for Septo-optic dysplasia ?
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Can septo-optic dysplasia be cured? There is no cure for septo-optic dysplasia. Treatment is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems are generally not treatable. Vision, physical, and occupational therapies may be 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 are the treatments for Septo-optic dysplasia ? assistant Can septo-optic dysplasia be cured? There is no cure for septo-optic dysplasia. Treatment is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems are generally not treatable. Vision, physical, and occupational therapies may be required.
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What are the symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism ?
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What are the signs and symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar ataxia and hypogonadotropic 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) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Abnormality of the hypothalamus-pituitary axis 90% Decreased fertility 90% Gynecomastia 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Optic atrophy 90% Hemiplegia/hemiparesis 50% Muscular hypotonia 50% Abnormality of calvarial morphology 7.5% Behavioral abnormality 7.5% Clinodactyly of the 5th finger 7.5% Developmental regression 7.5% Short stature 7.5% Supernumerary nipple 7.5% Oligomenorrhea 5% Abnormality of metabolism/homeostasis - Abnormality of the skeletal system - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Chorioretinal dystrophy - Dementia - Dysarthria - Hypogonadotrophic hypogonadism - Infertility - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Cerebellar ataxia and hypogonadotropic hypogonadism ? assistant What are the signs and symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar ataxia and hypogonadotropic 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) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Abnormality of the hypothalamus-pituitary axis 90% Decreased fertility 90% Gynecomastia 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Optic atrophy 90% Hemiplegia/hemiparesis 50% Muscular hypotonia 50% Abnormality of calvarial morphology 7.5% Behavioral abnormality 7.5% Clinodactyly of the 5th finger 7.5% Developmental regression 7.5% Short stature 7.5% Supernumerary nipple 7.5% Oligomenorrhea 5% Abnormality of metabolism/homeostasis - Abnormality of the skeletal system - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Chorioretinal dystrophy - Dementia - Dysarthria - Hypogonadotrophic hypogonadism - Infertility - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Prader-Willi habitus, osteopenia, and camptodactyly ?
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Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported 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) Prader-Willi habitus, osteopenia, and camptodactyly ? assistant Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported cases.
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What are the symptoms of Prader-Willi habitus, osteopenia, and camptodactyly ?
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What are the signs and symptoms of Prader-Willi habitus, osteopenia, and camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi habitus, osteopenia, and camptodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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% Camptodactyly of finger 90% Camptodactyly of toe 90% Cognitive impairment 90% Hypoplasia of penis 90% Obesity 90% Recurrent fractures 90% Abnormal diaphysis morphology 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Epicanthus 50% Eunuchoid habitus 50% Kyphosis 50% Overfolded helix 50% Prominent nasal bridge 50% Short foot 50% Short neck 50% Short stature 50% Strabismus 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Abnormality of the philtrum 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Abnormality of the genital system - Autosomal recessive inheritance - Camptodactyly - Enlarged epiphyses - Intellectual disability - Joint contracture of the hand - Osteopenia - Osteoporosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Prader-Willi habitus, osteopenia, and camptodactyly ? assistant What are the signs and symptoms of Prader-Willi habitus, osteopenia, and camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi habitus, osteopenia, and camptodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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% Camptodactyly of finger 90% Camptodactyly of toe 90% Cognitive impairment 90% Hypoplasia of penis 90% Obesity 90% Recurrent fractures 90% Abnormal diaphysis morphology 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Epicanthus 50% Eunuchoid habitus 50% Kyphosis 50% Overfolded helix 50% Prominent nasal bridge 50% Short foot 50% Short neck 50% Short stature 50% Strabismus 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Abnormality of the philtrum 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Abnormality of the genital system - Autosomal recessive inheritance - Camptodactyly - Enlarged epiphyses - Intellectual disability - Joint contracture of the hand - Osteopenia - Osteoporosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Glanzmann thrombasthenia ?
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Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine (hematuria) can occur. Prolonged untreated or unsuccessfully treated bleeding may be life threatening. This condition is inherited in an autosomal recessive fashion and is caused by mutations in either the ITGA2B or ITGB3 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: What is (are) Glanzmann thrombasthenia ? assistant Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine (hematuria) can occur. Prolonged untreated or unsuccessfully treated bleeding may be life threatening. This condition is inherited in an autosomal recessive fashion and is caused by mutations in either the ITGA2B or ITGB3 genes.
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What are the symptoms of Glanzmann thrombasthenia ?
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What are the signs and symptoms of Glanzmann thrombasthenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Glanzmann thrombasthenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Bruising susceptibility - Decreased platelet glycoprotein IIb-IIIa - Epistaxis - Gastrointestinal hemorrhage - Gingival bleeding - Impaired platelet aggregation - Intracranial hemorrhage - Menorrhagia - Prolonged bleeding time - Purpura - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Glanzmann thrombasthenia ? assistant What are the signs and symptoms of Glanzmann thrombasthenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Glanzmann thrombasthenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Bruising susceptibility - Decreased platelet glycoprotein IIb-IIIa - Epistaxis - Gastrointestinal hemorrhage - Gingival bleeding - Impaired platelet aggregation - Intracranial hemorrhage - Menorrhagia - Prolonged bleeding time - Purpura - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Ectodermal dysplasia adrenal cyst ?
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What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 endocrine system - Autosomal dominant inheritance - Breast hypoplasia - Delayed eruption of teeth - Ectodermal dysplasia - Hypohidrosis - Hypoplastic nipples - Nail dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Ectodermal dysplasia adrenal cyst ? assistant What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 endocrine system - Autosomal dominant inheritance - Breast hypoplasia - Delayed eruption of teeth - Ectodermal dysplasia - Hypohidrosis - Hypoplastic nipples - Nail dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Intracranial arteriovenous malformation ?
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Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development. Medication is used to treat general symptoms such as headache, back pain, and seizures caused by AVMs. However, the best treatment for AVMs is often surgery or sterotactic radiosurgery.
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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) Intracranial arteriovenous malformation ? assistant Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development. Medication is used to treat general symptoms such as headache, back pain, and seizures caused by AVMs. However, the best treatment for AVMs is often surgery or sterotactic radiosurgery.
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What are the symptoms of Intellectual disability - athetosis - microphthalmia ?
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What are the signs and symptoms of Intellectual disability - athetosis - microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability - athetosis - microphthalmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 movement 90% Abnormality of thumb phalanx 90% Broad forehead 90% Chin dimple 90% Cognitive impairment 90% Facial cleft 90% Frontal bossing 90% Hypertelorism 90% Hypertonia 90% Hypoplasia of the ear cartilage 90% Large earlobe 90% Malar flattening 90% Microcephaly 90% Reduced number of teeth 90% Scoliosis 90% Single transverse palmar crease 90% Supernumerary nipple 90% Telecanthus 90% Abnormality of the palate 50% Abnormality of the thorax 50% Aplasia/Hypoplasia affecting the eye 50% Blue sclerae 50% Camptodactyly of finger 50% Facial asymmetry 50% Iris coloboma 50% Lip pit 50% Mandibular prognathia 50% Preauricular skin tag 50% Seizures 50% Strabismus 50% Tapered finger 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 Intellectual disability - athetosis - microphthalmia ? assistant What are the signs and symptoms of Intellectual disability - athetosis - microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability - athetosis - microphthalmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 movement 90% Abnormality of thumb phalanx 90% Broad forehead 90% Chin dimple 90% Cognitive impairment 90% Facial cleft 90% Frontal bossing 90% Hypertelorism 90% Hypertonia 90% Hypoplasia of the ear cartilage 90% Large earlobe 90% Malar flattening 90% Microcephaly 90% Reduced number of teeth 90% Scoliosis 90% Single transverse palmar crease 90% Supernumerary nipple 90% Telecanthus 90% Abnormality of the palate 50% Abnormality of the thorax 50% Aplasia/Hypoplasia affecting the eye 50% Blue sclerae 50% Camptodactyly of finger 50% Facial asymmetry 50% Iris coloboma 50% Lip pit 50% Mandibular prognathia 50% Preauricular skin tag 50% Seizures 50% Strabismus 50% Tapered finger 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 are the symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia ?
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What are the signs and symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive palmoplantar keratoderma and congenital alopecia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Cataract 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Visual impairment 90% Alopecia totalis - Amniotic constriction ring - Autosomal recessive inheritance - Camptodactyly of finger - Congenital cataract - Dry skin - Facial erythema - Hyperkeratosis - Nail dysplasia - Nail dystrophy - Palmoplantar hyperkeratosis - Sclerodactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Autosomal recessive palmoplantar keratoderma and congenital alopecia ? assistant What are the signs and symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive palmoplantar keratoderma and congenital alopecia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Cataract 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Visual impairment 90% Alopecia totalis - Amniotic constriction ring - Autosomal recessive inheritance - Camptodactyly of finger - Congenital cataract - Dry skin - Facial erythema - Hyperkeratosis - Nail dysplasia - Nail dystrophy - Palmoplantar hyperkeratosis - Sclerodactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Narcolepsy ?
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Narcolepsy is a chronic brain disorder that involves poor control of sleep-wake cycles. People with narcolepsy have episodes of extreme daytime sleepiness and sudden, irresistible bouts of sleep (called "sleep attacks") that can occur at any time, and may last from seconds or minutes. Other signs and symptoms may include cataplexy (a sudden loss of muscle tone that makes a person go limp or unable to move); vivid dream-like images or hallucinations; and/or total paralysis just before falling asleep or after waking-up. Narcolepsy may have several causes, the most common being low levels of the neurotransmitter hypocretin (for various possible reasons). The disorder is usually sporadic but some cases are familial. There is no cure, but some symptoms can be managed with medicines and lifestyle changes.
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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) Narcolepsy ? assistant Narcolepsy is a chronic brain disorder that involves poor control of sleep-wake cycles. People with narcolepsy have episodes of extreme daytime sleepiness and sudden, irresistible bouts of sleep (called "sleep attacks") that can occur at any time, and may last from seconds or minutes. Other signs and symptoms may include cataplexy (a sudden loss of muscle tone that makes a person go limp or unable to move); vivid dream-like images or hallucinations; and/or total paralysis just before falling asleep or after waking-up. Narcolepsy may have several causes, the most common being low levels of the neurotransmitter hypocretin (for various possible reasons). The disorder is usually sporadic but some cases are familial. There is no cure, but some symptoms can be managed with medicines and lifestyle changes.
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What are the symptoms of Narcolepsy ?
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What are the signs and symptoms of Narcolepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Narcolepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hallucinations 90% Memory impairment 90% Muscle weakness 90% Reduced consciousness/confusion 90% Sleep disturbance 90% Abnormality of eye movement 50% Neurological speech impairment 7.5% Obesity 7.5% Sudden cardiac death 7.5% Abnormal rapid eye movement (REM) sleep - Autosomal dominant inheritance - Cataplexy - Excessive daytime sleepiness - Heterogeneous - Hypnagogic hallucinations - Hypnopompic hallucinations - Narcolepsy - Paroxysmal drowsiness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Narcolepsy ? assistant What are the signs and symptoms of Narcolepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Narcolepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hallucinations 90% Memory impairment 90% Muscle weakness 90% Reduced consciousness/confusion 90% Sleep disturbance 90% Abnormality of eye movement 50% Neurological speech impairment 7.5% Obesity 7.5% Sudden cardiac death 7.5% Abnormal rapid eye movement (REM) sleep - Autosomal dominant inheritance - Cataplexy - Excessive daytime sleepiness - Heterogeneous - Hypnagogic hallucinations - Hypnopompic hallucinations - Narcolepsy - Paroxysmal drowsiness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Narcolepsy ?
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How is narcolepsy diagnosed? Narcolepsy is often diagnosed in adolescence and young adulthood, when falling asleep suddenly in school brings the problem to attention. However, for many people with narcolepsy, the disorder is not diagnosed for up to 10-15 years after symptoms first begin. The disorder may be misdiagnosed as various other conditions or psychological problems. While it is most easily recognized if all the major symptoms are reported, making the diagnosis based solely on symptoms is difficult. People often seek medical help for single symptoms that could be associated with other disorders, particularly epilepsy. In come cases, symptoms are not dramatically apparent for years. Sleep studies are an essential part of the evaluation of people with possible narcolepsy. The combination of an overnight polysomnogram (PSG) followed by a multiple sleep latency test (MSLT) can provide strongly suggestive evidence of narcolepsy, while excluding other sleep disorders. Measurement of hypocretin levels in the cerebrospinal fluid (CSF) may further help to establish the diagnosis. People with narcolepsy often have extremely low levels of hypocretin in their CSF. In some cases, human leukocyte antigen (HLA) typing may be helpful.
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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 Narcolepsy ? assistant How is narcolepsy diagnosed? Narcolepsy is often diagnosed in adolescence and young adulthood, when falling asleep suddenly in school brings the problem to attention. However, for many people with narcolepsy, the disorder is not diagnosed for up to 10-15 years after symptoms first begin. The disorder may be misdiagnosed as various other conditions or psychological problems. While it is most easily recognized if all the major symptoms are reported, making the diagnosis based solely on symptoms is difficult. People often seek medical help for single symptoms that could be associated with other disorders, particularly epilepsy. In come cases, symptoms are not dramatically apparent for years. Sleep studies are an essential part of the evaluation of people with possible narcolepsy. The combination of an overnight polysomnogram (PSG) followed by a multiple sleep latency test (MSLT) can provide strongly suggestive evidence of narcolepsy, while excluding other sleep disorders. Measurement of hypocretin levels in the cerebrospinal fluid (CSF) may further help to establish the diagnosis. People with narcolepsy often have extremely low levels of hypocretin in their CSF. In some cases, human leukocyte antigen (HLA) typing may be helpful.
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What are the treatments for Narcolepsy ?
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How might narcolepsy be treated? There is currently no cure for narcolepsy, but some of the symptoms can be managed with medications and lifestyle changes. Most affected people improve if they maintain a regular sleep schedule, usually 7.5 to 8 hours of sleep per night. Scheduled naps during the day also may help. Other measures that may help include participating in an exercise program; receiving emotional support and career or vocational counseling; and avoiding high-risk behaviors such as alcohol and drug use, which may make symptoms worse. Common-sense measures should be taken to enhance sleep quality (such as avoiding heavy meals before bed time). Treatment with medications involves the use of central nervous system (CNS) stimulants. These medications help reduce daytime sleepiness and improve this symptom in 65-85% of affected people. Two types of antidepressant drugs (tricyclics, and selective serotonin and noradrenergic reuptake inhibitors) are effective in controlling cataplexy in many people. Sodium oxybate (a strong sedative taken during the night) may also be used to treat narcolepsy. You can view detailed information about the treatment of narcolepsy on Medscape's 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 Narcolepsy ? assistant How might narcolepsy be treated? There is currently no cure for narcolepsy, but some of the symptoms can be managed with medications and lifestyle changes. Most affected people improve if they maintain a regular sleep schedule, usually 7.5 to 8 hours of sleep per night. Scheduled naps during the day also may help. Other measures that may help include participating in an exercise program; receiving emotional support and career or vocational counseling; and avoiding high-risk behaviors such as alcohol and drug use, which may make symptoms worse. Common-sense measures should be taken to enhance sleep quality (such as avoiding heavy meals before bed time). Treatment with medications involves the use of central nervous system (CNS) stimulants. These medications help reduce daytime sleepiness and improve this symptom in 65-85% of affected people. Two types of antidepressant drugs (tricyclics, and selective serotonin and noradrenergic reuptake inhibitors) are effective in controlling cataplexy in many people. Sodium oxybate (a strong sedative taken during the night) may also be used to treat narcolepsy. You can view detailed information about the treatment of narcolepsy on Medscape's Web site.
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What are the symptoms of Kerion celsi ?
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What are the signs and symptoms of Kerion celsi? The Human Phenotype Ontology provides the following list of signs and symptoms for Kerion celsi. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the skin - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 Kerion celsi ? assistant What are the signs and symptoms of Kerion celsi? The Human Phenotype Ontology provides the following list of signs and symptoms for Kerion celsi. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the skin - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy ?
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What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive with axonal neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Distal amyotrophy - Peripheral axonal neuropathy - Pes cavus - Steppage 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 Spinocerebellar ataxia autosomal recessive with axonal neuropathy ? assistant What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive with axonal neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Distal amyotrophy - Peripheral axonal neuropathy - Pes cavus - Steppage 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 Deafness oligodontia syndrome ?
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What are the signs and symptoms of Deafness oligodontia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness oligodontia 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) Reduced number of teeth 90% Sensorineural hearing impairment 90% Vertigo 50% Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Diastema - Oligodontia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Deafness oligodontia syndrome ? assistant What are the signs and symptoms of Deafness oligodontia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness oligodontia 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) Reduced number of teeth 90% Sensorineural hearing impairment 90% Vertigo 50% Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Diastema - Oligodontia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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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