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What are the symptoms of Glutamate formiminotransferase deficiency ?
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What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase 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) Aminoaciduria - Autosomal recessive inheritance - Growth delay - Hypersegmentation of neutrophil nuclei - Intellectual disability - Megaloblastic anemia - Positive ferric chloride test - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Glutamate formiminotransferase deficiency ? assistant What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase 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) Aminoaciduria - Autosomal recessive inheritance - Growth delay - Hypersegmentation of neutrophil nuclei - Intellectual disability - Megaloblastic anemia - Positive ferric chloride test - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Linear scleroderma ?
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Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abnormalities of the muscles, fat tissue and skull. When the face is affected, some strips located on the forehead may be hollow and lead to an appearance termed "en coup de sabre". In most cases, Raynaud's phenomenon is absent. The exact cause is still unknown but may be related to an autoimmune reaction resulting in too much collagen. Management is symptomatic and includes immunosupressant medication. Physical therapy is helpful for the muscle retraction problems.
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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) Linear scleroderma ? assistant Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abnormalities of the muscles, fat tissue and skull. When the face is affected, some strips located on the forehead may be hollow and lead to an appearance termed "en coup de sabre". In most cases, Raynaud's phenomenon is absent. The exact cause is still unknown but may be related to an autoimmune reaction resulting in too much collagen. Management is symptomatic and includes immunosupressant medication. Physical therapy is helpful for the muscle retraction problems.
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What is (are) Isodicentric chromosome 15 syndrome ?
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Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
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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) Isodicentric chromosome 15 syndrome ? assistant Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
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What is (are) Tietz syndrome ?
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Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair. It is caused by changes (mutations) in the MITF gene and inherited in an autosomal dominant manner. The goal of treatment is to improve hearing; cochlear implantation may be considered.
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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) Tietz syndrome ? assistant Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair. It is caused by changes (mutations) in the MITF gene and inherited in an autosomal dominant manner. The goal of treatment is to improve hearing; cochlear implantation may be considered.
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What are the symptoms of Tietz syndrome ?
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What are the signs and symptoms of Tietz syndrome? The signs and symptoms of Tietz syndrome are usually present at birth and may include: Severe, bilateral (both ears) sensorineural hearing loss Fair skin Light-colored hair Blue eyes The Human Phenotype Ontology provides the following list of signs and symptoms for Tietz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the eyebrow 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Autosomal dominant inheritance - Bilateral sensorineural hearing impairment - Blue irides - Congenital sensorineural hearing impairment - Hypopigmentation of the fundus - White eyebrow - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Tietz syndrome ? assistant What are the signs and symptoms of Tietz syndrome? The signs and symptoms of Tietz syndrome are usually present at birth and may include: Severe, bilateral (both ears) sensorineural hearing loss Fair skin Light-colored hair Blue eyes The Human Phenotype Ontology provides the following list of signs and symptoms for Tietz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the eyebrow 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Autosomal dominant inheritance - Bilateral sensorineural hearing impairment - Blue irides - Congenital sensorineural hearing impairment - Hypopigmentation of the fundus - White eyebrow - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Tietz syndrome ?
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How is Tietz syndrome diagnosed? A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis. Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene. It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.
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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 Tietz syndrome ? assistant How is Tietz syndrome diagnosed? A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis. Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene. It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.
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What is (are) Autosomal recessive pseudohypoaldosteronism type 1 ?
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Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. Respiratory tract infections are common in affected children. Treatment involves aggressive salt replacement and control of hyperkalemia. The disorder may become less severe with age. Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G).
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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 recessive pseudohypoaldosteronism type 1 ? assistant Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. Respiratory tract infections are common in affected children. Treatment involves aggressive salt replacement and control of hyperkalemia. The disorder may become less severe with age. Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G).
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What are the symptoms of Autosomal recessive pseudohypoaldosteronism type 1 ?
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What are the signs and symptoms of Autosomal recessive pseudohypoaldosteronism type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive pseudohypoaldosteronism 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) Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Feeding difficulties in infancy - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hyperkalemia - Hyponatremia - Hypotension - Infantile onset - Metabolic acidosis - Pseudohypoaldosteronism - Recurrent respiratory infections - Renal salt wasting - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 pseudohypoaldosteronism type 1 ? assistant What are the signs and symptoms of Autosomal recessive pseudohypoaldosteronism type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive pseudohypoaldosteronism 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) Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Feeding difficulties in infancy - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hyperkalemia - Hyponatremia - Hypotension - Infantile onset - Metabolic acidosis - Pseudohypoaldosteronism - Recurrent respiratory infections - Renal salt wasting - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What is (are) Idiopathic thrombocytopenic purpura ?
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Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatment, the chance of remission (a symptom-free period) is good. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Idiopathic thrombocytopenic purpura ? assistant Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatment, the chance of remission (a symptom-free period) is good. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission.
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What are the symptoms of Idiopathic thrombocytopenic purpura ?
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What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic 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) Abnormal bleeding - Autosomal dominant inheritance - Platelet antibody positive - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Idiopathic thrombocytopenic purpura ? assistant What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic 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) Abnormal bleeding - Autosomal dominant inheritance - Platelet antibody positive - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Wiedemann Oldigs Oppermann syndrome ?
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What are the signs and symptoms of Wiedemann Oldigs Oppermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann Oldigs Oppermann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of calvarial morphology 90% Abnormality of the clavicle 90% Abnormality of the elbow 90% Abnormality of the fingernails 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Aplasia/Hypoplasia of the earlobes 90% Astigmatism 90% Cognitive impairment 90% Epicanthus 90% Hearing abnormality 90% Hypertelorism 90% Hypertrichosis 90% Hyperuricemia 90% Long thorax 90% Narrow chest 90% Pectus carinatum 90% Proptosis 90% Proximal placement of thumb 90% Strabismus 90% Tracheal stenosis 90% Wide nasal bridge 90% Wormian bones 90% Autosomal dominant inheritance - Brachycephaly - Coxa valga - Down-sloping shoulders - Hirsutism - Intellectual disability - Long neck - Pes cavus - Skeletal 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 Wiedemann Oldigs Oppermann syndrome ? assistant What are the signs and symptoms of Wiedemann Oldigs Oppermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann Oldigs Oppermann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of calvarial morphology 90% Abnormality of the clavicle 90% Abnormality of the elbow 90% Abnormality of the fingernails 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Aplasia/Hypoplasia of the earlobes 90% Astigmatism 90% Cognitive impairment 90% Epicanthus 90% Hearing abnormality 90% Hypertelorism 90% Hypertrichosis 90% Hyperuricemia 90% Long thorax 90% Narrow chest 90% Pectus carinatum 90% Proptosis 90% Proximal placement of thumb 90% Strabismus 90% Tracheal stenosis 90% Wide nasal bridge 90% Wormian bones 90% Autosomal dominant inheritance - Brachycephaly - Coxa valga - Down-sloping shoulders - Hirsutism - Intellectual disability - Long neck - Pes cavus - Skeletal 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 are the symptoms of Spastic paraplegia 16 ?
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What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Babinski sign - Facial hypotonia - Hyperreflexia - Hypoplasia of the maxilla - Intellectual disability - Juvenile onset - Low frustration tolerance - Lower limb amyotrophy - Lower limb muscle weakness - Mood swings - Motor aphasia - Restlessness - Short distal phalanx of finger - Shuffling gait - Spastic paraplegia - Strabismus - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Visual impairment - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spastic paraplegia 16 ? assistant What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Babinski sign - Facial hypotonia - Hyperreflexia - Hypoplasia of the maxilla - Intellectual disability - Juvenile onset - Low frustration tolerance - Lower limb amyotrophy - Lower limb muscle weakness - Mood swings - Motor aphasia - Restlessness - Short distal phalanx of finger - Shuffling gait - Spastic paraplegia - Strabismus - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Visual impairment - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What is (are) Actinomycosis ?
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Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.
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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) Actinomycosis ? assistant Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.
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What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17 ?
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What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - High-frequency hearing impairment - Juvenile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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, autosomal dominant nonsyndromic sensorineural 17 ? assistant What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - High-frequency hearing impairment - Juvenile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Pseudoprogeria syndrome ?
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What are the signs and symptoms of Pseudoprogeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoprogeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the teeth 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Convex nasal ridge 90% Freckling 90% Gait disturbance 90% Hypertonia 90% Microcephaly 90% Narrow nasal bridge 90% Neurological speech impairment 90% Prominent nasal bridge 90% Ptosis 90% Reduced bone mineral density 90% Scoliosis 90% Short philtrum 90% Thin skin 90% Abnormality of the nipple 50% Abnormality of the pinna 50% Delayed skeletal maturation 50% Glaucoma 50% Hemiplegia/hemiparesis 50% Microcornea 50% Optic atrophy 50% Seizures 50% Short stature 50% Absent eyebrow 2/2 Absent eyelashes 2/2 Convex nasal ridge 2/2 Glaucoma 2/2 Microcephaly 2/2 Progressive spastic quadriplegia 2/2 Short nose 2/2 Encephalocele 1/2 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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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Pseudoprogeria syndrome ? assistant What are the signs and symptoms of Pseudoprogeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoprogeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the teeth 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Convex nasal ridge 90% Freckling 90% Gait disturbance 90% Hypertonia 90% Microcephaly 90% Narrow nasal bridge 90% Neurological speech impairment 90% Prominent nasal bridge 90% Ptosis 90% Reduced bone mineral density 90% Scoliosis 90% Short philtrum 90% Thin skin 90% Abnormality of the nipple 50% Abnormality of the pinna 50% Delayed skeletal maturation 50% Glaucoma 50% Hemiplegia/hemiparesis 50% Microcornea 50% Optic atrophy 50% Seizures 50% Short stature 50% Absent eyebrow 2/2 Absent eyelashes 2/2 Convex nasal ridge 2/2 Glaucoma 2/2 Microcephaly 2/2 Progressive spastic quadriplegia 2/2 Short nose 2/2 Encephalocele 1/2 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 Alopecia-intellectual disability syndrome ?
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What are the signs and symptoms of Alopecia-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia-intellectual disability 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) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hearing impairment 90% Microcephaly 90% Muscular hypotonia 90% Abnormality of the genital system 50% Brachydactyly syndrome 50% EEG abnormality 50% Ichthyosis 50% Photophobia 50% Seizures 50% Short stature 50% Split hand 50% Abnormal nasal morphology 7.5% Flexion contracture 7.5% Macrotia 7.5% Scoliosis 7.5% Alopecia universalis - Autosomal recessive inheritance - Intellectual disability, progressive - Intellectual disability, severe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Alopecia-intellectual disability syndrome ? assistant What are the signs and symptoms of Alopecia-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia-intellectual disability 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) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hearing impairment 90% Microcephaly 90% Muscular hypotonia 90% Abnormality of the genital system 50% Brachydactyly syndrome 50% EEG abnormality 50% Ichthyosis 50% Photophobia 50% Seizures 50% Short stature 50% Split hand 50% Abnormal nasal morphology 7.5% Flexion contracture 7.5% Macrotia 7.5% Scoliosis 7.5% Alopecia universalis - Autosomal recessive inheritance - Intellectual disability, progressive - Intellectual disability, severe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Tumor necrosis factor receptor-associated periodic syndrome ?
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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between episodes may vary from weeks to years. Episodes usually occur spontaneously, but are sometimes brought on by a variety of triggers (such as injury, infection, or stress). Symptoms during fever episodes may include abdominal, muscle or joint pains; skin rashes (usually on the limbs); puffiness around the eyes; and inflammation in various areas of the body. Some people develop amyloidosis. TRAPS is caused by mutations in the TNFRSF1A gene and is inherited in an autosomal dominant manner. Treatment may include systemic corticosteroids at the beginning of an episode to reduce its severity and duration.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Tumor necrosis factor receptor-associated periodic syndrome ? assistant Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between episodes may vary from weeks to years. Episodes usually occur spontaneously, but are sometimes brought on by a variety of triggers (such as injury, infection, or stress). Symptoms during fever episodes may include abdominal, muscle or joint pains; skin rashes (usually on the limbs); puffiness around the eyes; and inflammation in various areas of the body. Some people develop amyloidosis. TRAPS is caused by mutations in the TNFRSF1A gene and is inherited in an autosomal dominant manner. Treatment may include systemic corticosteroids at the beginning of an episode to reduce its severity and duration.
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What are the symptoms of Tumor necrosis factor receptor-associated periodic syndrome ?
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What are the signs and symptoms of Tumor necrosis factor receptor-associated periodic syndrome? The characteristic feature of TRAPS is recurrent episodes of fever. Episodes may begin at any age, but most often begin in early childhood. Fevers usually last around 3 weeks but can last from days to months. The time between episodes can vary considerably from weeks to years. Fevers are often associated with other symptoms, which may include muscle, joint, and/or abdominal pain; a spreading rash; puffiness and/or swelling around the eyes; and/or inflammation in various other areas of the body including the heart muscle, joints, throat, or mucous membranes. About 25% of people with TRAPS develop amyloidosis, which can lead to kidney or liver failure. The Human Phenotype Ontology provides the following list of signs and symptoms for Tumor necrosis factor receptor-associated periodic 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) Erysipelas 90% Hypermelanotic macule 90% Skin rash 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Arthralgia 50% Arthritis 50% Chest pain 50% Constipation 50% Intestinal obstruction 50% Leukocytosis 50% Myalgia 50% Nausea and vomiting 50% Orchitis 50% Periorbital edema 50% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Abnormality of the sacroiliac joint 7.5% Alopecia 7.5% Behavioral abnormality 7.5% Bruising susceptibility 7.5% Cellulitis 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Diarrhea 7.5% Elevated hepatic transaminases 7.5% Fasciitis 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Migraine 7.5% Myositis 7.5% Nephropathy 7.5% Paresthesia 7.5% Peritonitis 7.5% Recurrent pharyngitis 7.5% Splenomegaly 7.5% Vasculitis 7.5% Vertigo 7.5% Visual impairment 7.5% Amyloidosis - Autosomal dominant inheritance - Edema - Elevated erythrocyte sedimentation rate - Episodic fever - Hepatic amyloidosis - Muscle stiffness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Tumor necrosis factor receptor-associated periodic syndrome ? assistant What are the signs and symptoms of Tumor necrosis factor receptor-associated periodic syndrome? The characteristic feature of TRAPS is recurrent episodes of fever. Episodes may begin at any age, but most often begin in early childhood. Fevers usually last around 3 weeks but can last from days to months. The time between episodes can vary considerably from weeks to years. Fevers are often associated with other symptoms, which may include muscle, joint, and/or abdominal pain; a spreading rash; puffiness and/or swelling around the eyes; and/or inflammation in various other areas of the body including the heart muscle, joints, throat, or mucous membranes. About 25% of people with TRAPS develop amyloidosis, which can lead to kidney or liver failure. The Human Phenotype Ontology provides the following list of signs and symptoms for Tumor necrosis factor receptor-associated periodic 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) Erysipelas 90% Hypermelanotic macule 90% Skin rash 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Arthralgia 50% Arthritis 50% Chest pain 50% Constipation 50% Intestinal obstruction 50% Leukocytosis 50% Myalgia 50% Nausea and vomiting 50% Orchitis 50% Periorbital edema 50% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Abnormality of the sacroiliac joint 7.5% Alopecia 7.5% Behavioral abnormality 7.5% Bruising susceptibility 7.5% Cellulitis 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Diarrhea 7.5% Elevated hepatic transaminases 7.5% Fasciitis 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Migraine 7.5% Myositis 7.5% Nephropathy 7.5% Paresthesia 7.5% Peritonitis 7.5% Recurrent pharyngitis 7.5% Splenomegaly 7.5% Vasculitis 7.5% Vertigo 7.5% Visual impairment 7.5% Amyloidosis - Autosomal dominant inheritance - Edema - Elevated erythrocyte sedimentation rate - Episodic fever - Hepatic amyloidosis - Muscle stiffness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Tumor necrosis factor receptor-associated periodic syndrome ?
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What causes tumor necrosis factor receptor-associated periodic syndrome (TRAPS)? TRAPS is a genetic condition caused by mutations in a gene called TNFRSF1A. This gene gives the body instructions to make a protein called tumor necrosis factor receptor 1 (TNFR1). This protein exists in cell membranes where it binds to another protein called tumor necrosis factor (TNF). The binding sends signals that tell the cells to trigger inflammation (producing immune system proteins) or self-destruct. Most TNFRSF1A gene mutations that cause TRAPS result in incorrectly-shaped TNFR1 proteins, which become trapped in cells and cannot reach the surface to bind with TNF. The trapped proteins then clump together and are thought to trigger other pathways involved in causing inflammation. Affected people typically have a mutation in only one of their 2 copies of the TNFRSF1A gene, so some normal TNFR1 proteins are still produced, leading to even more inflammation. This is what leads to excess inflammation in people with TRAPS. It is unclear if abnormalities in the cells' ability to self-destruct also plays a role in causing the features of TRAPS.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Tumor necrosis factor receptor-associated periodic syndrome ? assistant What causes tumor necrosis factor receptor-associated periodic syndrome (TRAPS)? TRAPS is a genetic condition caused by mutations in a gene called TNFRSF1A. This gene gives the body instructions to make a protein called tumor necrosis factor receptor 1 (TNFR1). This protein exists in cell membranes where it binds to another protein called tumor necrosis factor (TNF). The binding sends signals that tell the cells to trigger inflammation (producing immune system proteins) or self-destruct. Most TNFRSF1A gene mutations that cause TRAPS result in incorrectly-shaped TNFR1 proteins, which become trapped in cells and cannot reach the surface to bind with TNF. The trapped proteins then clump together and are thought to trigger other pathways involved in causing inflammation. Affected people typically have a mutation in only one of their 2 copies of the TNFRSF1A gene, so some normal TNFR1 proteins are still produced, leading to even more inflammation. This is what leads to excess inflammation in people with TRAPS. It is unclear if abnormalities in the cells' ability to self-destruct also plays a role in causing the features of TRAPS.
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Is Tumor necrosis factor receptor-associated periodic syndrome inherited ?
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How is tumor necrosis factor receptor-associated periodic syndrome (TRAPS) inherited? TRAPS is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene 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. In many cases, a person with TRAPS inherits the condition from an affected parent. In other cases, the mutation occurs for the first time in the affected person and is not inherited from a parent. For unknown reasons, some people who inherit the mutated gene never develop features of TRAPS. When this occurs, a condition is said to have reduced penetrance.
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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 Tumor necrosis factor receptor-associated periodic syndrome inherited ? assistant How is tumor necrosis factor receptor-associated periodic syndrome (TRAPS) inherited? TRAPS is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene 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. In many cases, a person with TRAPS inherits the condition from an affected parent. In other cases, the mutation occurs for the first time in the affected person and is not inherited from a parent. For unknown reasons, some people who inherit the mutated gene never develop features of TRAPS. When this occurs, a condition is said to have reduced penetrance.
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What are the treatments for Tumor necrosis factor receptor-associated periodic syndrome ?
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How might tumor necrosis factor receptor-associated periodic syndrome (TRAPS) be treated? While there is no proven treatment for TRAPS, non steroidal anti-inflammatory drugs (NSAIDS) may be used to relieve symptoms of fever, and corticosteroids may be used to reduce severity of symptoms in most people. However, these medications typically don't decrease the frequency of attacks. Etanercept, a TNF inhibitor, has been shown to be effective but its efficacy tends to wane over time. Standard doses of etanercept twice a week have been shown to decrease the frequency, duration, and severity of attacks in some people and it may also reverse or slow the progression of amyloidosis. More studies are needed to evaluate this medication for TRAPS. Additional information about the treatment of TRAPS can be viewed on Medscape's Web site.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Tumor necrosis factor receptor-associated periodic syndrome ? assistant How might tumor necrosis factor receptor-associated periodic syndrome (TRAPS) be treated? While there is no proven treatment for TRAPS, non steroidal anti-inflammatory drugs (NSAIDS) may be used to relieve symptoms of fever, and corticosteroids may be used to reduce severity of symptoms in most people. However, these medications typically don't decrease the frequency of attacks. Etanercept, a TNF inhibitor, has been shown to be effective but its efficacy tends to wane over time. Standard doses of etanercept twice a week have been shown to decrease the frequency, duration, and severity of attacks in some people and it may also reverse or slow the progression of amyloidosis. More studies are needed to evaluate this medication for TRAPS. Additional information about the treatment of TRAPS can be viewed on Medscape's Web site.
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What is (are) Stickler syndrome type 1 ?
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Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Stickler syndrome type 1 ? assistant Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner.
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What are the symptoms of Stickler syndrome type 1 ?
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What are the signs and symptoms of Stickler syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vitreous humor 90% Cataract 90% Long philtrum 90% Myopia 90% Retinal detachment 90% Short nose 90% Skeletal dysplasia 90% Abnormality of the mitral valve 50% Abnormality of vertebral epiphysis morphology 50% Arthralgia 50% Cleft palate 50% Disproportionate tall stature 50% Joint hypermobility 50% Osteoarthritis 50% Platyspondyly 50% Proptosis 50% Sensorineural hearing impairment 50% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Visual impairment 7.5% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Beaking of vertebral bodies - Blindness - Depressed nasal bridge - Flat midface - Glaucoma - Irregular femoral epiphysis - Kyphosis - Malar flattening - Mitral valve prolapse - Pectus excavatum - Pierre-Robin sequence - Scoliosis - Spondyloepiphyseal 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 Stickler syndrome type 1 ? assistant What are the signs and symptoms of Stickler syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vitreous humor 90% Cataract 90% Long philtrum 90% Myopia 90% Retinal detachment 90% Short nose 90% Skeletal dysplasia 90% Abnormality of the mitral valve 50% Abnormality of vertebral epiphysis morphology 50% Arthralgia 50% Cleft palate 50% Disproportionate tall stature 50% Joint hypermobility 50% Osteoarthritis 50% Platyspondyly 50% Proptosis 50% Sensorineural hearing impairment 50% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Visual impairment 7.5% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Beaking of vertebral bodies - Blindness - Depressed nasal bridge - Flat midface - Glaucoma - Irregular femoral epiphysis - Kyphosis - Malar flattening - Mitral valve prolapse - Pectus excavatum - Pierre-Robin sequence - Scoliosis - Spondyloepiphyseal 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 are the symptoms of Zunich neuroectodermal syndrome ?
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What are the signs and symptoms of Zunich neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zunich neuroectodermal 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% Abnormality of calvarial morphology 90% Aplasia/Hypoplasia of the nipples 90% Chorioretinal coloboma 90% Cognitive impairment 90% Depressed nasal ridge 90% Epicanthus 90% External ear malformation 90% Hearing impairment 90% Hypertelorism 90% Ichthyosis 90% Microdontia 90% Ptosis 90% Reduced number of teeth 90% Short philtrum 90% Strabismus 90% Tall stature 90% Thick lower lip vermilion 90% Abnormality of epiphysis morphology 50% Abnormality of the clavicle 50% Abnormality of the pulmonary valve 50% Adactyly 50% Brachydactyly syndrome 50% Cleft palate 50% Increased number of teeth 50% Opacification of the corneal stroma 50% Seizures 50% Short toe 50% Tetralogy of Fallot 50% Transposition of the great arteries 50% Upslanted palpebral fissure 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the kidney 7.5% Acute leukemia 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Clubbing of toes 7.5% Fine hair 7.5% Hyperkeratosis 7.5% Osteolysis 7.5% Skin ulcer 7.5% Ventricular septal defect 7.5% Acute lymphoblastic leukemia - Autosomal recessive inheritance - Brachycephaly - Broad-based gait - Cerebral atrophy - Clinodactyly of the 5th finger - Conductive hearing impairment - Duplicated collecting system - Frontal bossing - Hydronephrosis - Hypoplastic nipples - Intellectual disability - Joint contracture of the hand - Large for gestational age - Large hands - Long foot - Low-set nipples - Muscular hypotonia - Overfolded helix - Palmoplantar hyperkeratosis - Peripheral pulmonary artery stenosis - Prominent forehead - Retinal coloboma - Sparse hair - Ureteropelvic junction obstruction - Violent behavior - Webbed neck - Wide mouth - Wide nasal bridge - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Zunich neuroectodermal syndrome ? assistant What are the signs and symptoms of Zunich neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zunich neuroectodermal 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% Abnormality of calvarial morphology 90% Aplasia/Hypoplasia of the nipples 90% Chorioretinal coloboma 90% Cognitive impairment 90% Depressed nasal ridge 90% Epicanthus 90% External ear malformation 90% Hearing impairment 90% Hypertelorism 90% Ichthyosis 90% Microdontia 90% Ptosis 90% Reduced number of teeth 90% Short philtrum 90% Strabismus 90% Tall stature 90% Thick lower lip vermilion 90% Abnormality of epiphysis morphology 50% Abnormality of the clavicle 50% Abnormality of the pulmonary valve 50% Adactyly 50% Brachydactyly syndrome 50% Cleft palate 50% Increased number of teeth 50% Opacification of the corneal stroma 50% Seizures 50% Short toe 50% Tetralogy of Fallot 50% Transposition of the great arteries 50% Upslanted palpebral fissure 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the kidney 7.5% Acute leukemia 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Clubbing of toes 7.5% Fine hair 7.5% Hyperkeratosis 7.5% Osteolysis 7.5% Skin ulcer 7.5% Ventricular septal defect 7.5% Acute lymphoblastic leukemia - Autosomal recessive inheritance - Brachycephaly - Broad-based gait - Cerebral atrophy - Clinodactyly of the 5th finger - Conductive hearing impairment - Duplicated collecting system - Frontal bossing - Hydronephrosis - Hypoplastic nipples - Intellectual disability - Joint contracture of the hand - Large for gestational age - Large hands - Long foot - Low-set nipples - Muscular hypotonia - Overfolded helix - Palmoplantar hyperkeratosis - Peripheral pulmonary artery stenosis - Prominent forehead - Retinal coloboma - Sparse hair - Ureteropelvic junction obstruction - Violent behavior - Webbed neck - Wide mouth - Wide nasal bridge - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Tubulointerstitial nephritis and uveitis ?
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What are the signs and symptoms of Tubulointerstitial nephritis and uveitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tubulointerstitial nephritis and uveitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Panuveitis 5% Abnormality of the mouth - Acute tubulointerstitial nephritis - Circulating immune complexes - Elevated serum creatinine - Glomerulonephritis - Non-caseating epithelioid cell granulomatosis - Reversible renal failure - Sporadic - Uveitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Tubulointerstitial nephritis and uveitis ? assistant What are the signs and symptoms of Tubulointerstitial nephritis and uveitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tubulointerstitial nephritis and uveitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Panuveitis 5% Abnormality of the mouth - Acute tubulointerstitial nephritis - Circulating immune complexes - Elevated serum creatinine - Glomerulonephritis - Non-caseating epithelioid cell granulomatosis - Reversible renal failure - Sporadic - Uveitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Banki syndrome ?
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What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Synostosis of carpal bones 90% Autosomal dominant inheritance - Clinodactyly - Radial deviation of 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 Banki syndrome ? assistant What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Synostosis of carpal bones 90% Autosomal dominant inheritance - Clinodactyly - Radial deviation of 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 are the symptoms of Severe congenital neutropenia X-linked ?
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What are the signs and symptoms of Severe congenital neutropenia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neutrophils 90% Decreased antibody level in blood 90% Abnormality of the skin - Congenital neutropenia - Recurrent bacterial infections - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Severe congenital neutropenia X-linked ? assistant What are the signs and symptoms of Severe congenital neutropenia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neutrophils 90% Decreased antibody level in blood 90% Abnormality of the skin - Congenital neutropenia - Recurrent bacterial infections - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Macrothrombocytopenia progressive deafness ?
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What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 bleeding - Abnormality of the eye - Abnormality of the urinary system - Autosomal dominant inheritance - Bruising susceptibility - Giant platelets - Progressive sensorineural hearing impairment - Prolonged bleeding time - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Macrothrombocytopenia progressive deafness ? assistant What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 bleeding - Abnormality of the eye - Abnormality of the urinary system - Autosomal dominant inheritance - Bruising susceptibility - Giant platelets - Progressive sensorineural hearing impairment - Prolonged bleeding time - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What is (are) Klinefelter syndrome ?
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Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also experience primary hypogonadism (decreased testosterone production), small testes, enlarged breast tissue (gynecomastia), tall stature, and/or infertility. KS is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). Treatment is based on the signs and symptoms present in each person.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Klinefelter syndrome ? assistant Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also experience primary hypogonadism (decreased testosterone production), small testes, enlarged breast tissue (gynecomastia), tall stature, and/or infertility. KS is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). Treatment is based on the signs and symptoms present in each person.
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What are the symptoms of Klinefelter syndrome ?
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What are the signs and symptoms of Klinefelter syndrome? The signs and symptoms of Klinefelter syndrome (KS) vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS. When present, symptoms may include: Small, firm testicles Delayed or incomplete puberty Breast growth (gynecomastia) Reduced facial and body hair Infertility Tall height Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Learning disablity Speech delay Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated. The Human Phenotype Ontology provides the following list of signs and symptoms for Klinefelter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Decreased fertility 90% Disproportionate tall stature 90% Neurological speech impairment 90% Abnormal hair quantity 50% Abnormality of movement 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Eunuchoid habitus 50% Hypoplasia of penis 50% Long face 50% Mandibular prognathia 50% Obesity 50% Reduced bone mineral density 50% Scoliosis 50% Single transverse palmar crease 50% Venous insufficiency 50% Abnormality of calvarial morphology 7.5% Abnormality of the mitral valve 7.5% Neoplasm 7.5% Type II diabetes mellitus 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 Klinefelter syndrome ? assistant What are the signs and symptoms of Klinefelter syndrome? The signs and symptoms of Klinefelter syndrome (KS) vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS. When present, symptoms may include: Small, firm testicles Delayed or incomplete puberty Breast growth (gynecomastia) Reduced facial and body hair Infertility Tall height Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Learning disablity Speech delay Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated. The Human Phenotype Ontology provides the following list of signs and symptoms for Klinefelter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Decreased fertility 90% Disproportionate tall stature 90% Neurological speech impairment 90% Abnormal hair quantity 50% Abnormality of movement 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Eunuchoid habitus 50% Hypoplasia of penis 50% Long face 50% Mandibular prognathia 50% Obesity 50% Reduced bone mineral density 50% Scoliosis 50% Single transverse palmar crease 50% Venous insufficiency 50% Abnormality of calvarial morphology 7.5% Abnormality of the mitral valve 7.5% Neoplasm 7.5% Type II diabetes mellitus 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 Klinefelter syndrome ?
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What causes Klinefelter syndrome? Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells. Most often, Klinefelter syndrome is caused by a single extra copy of the X chromosome, resulting in a total of 47 chromosomes per cell. Males normally have one X chromosome and one Y chromosome in each cell (46, XY), while females have two X chromosomes (46, XX). People with Klinefelter syndrome usually have two X chromosomes and one Y chromosome (47, XXY). Some people with Klinefelter syndrome have the extra X chromosome in only some of their cells; these people are said to have mosaic Klinefelter syndrome. It is estimated that about half of the time, the cell division error occurs during development of the sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased chance of having offspring with this syndrome. The features of Klinefelter syndrome are due to the extra copies of genes on the extra X chromosome, which can alter male sexual development.
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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 Klinefelter syndrome ? assistant What causes Klinefelter syndrome? Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells. Most often, Klinefelter syndrome is caused by a single extra copy of the X chromosome, resulting in a total of 47 chromosomes per cell. Males normally have one X chromosome and one Y chromosome in each cell (46, XY), while females have two X chromosomes (46, XX). People with Klinefelter syndrome usually have two X chromosomes and one Y chromosome (47, XXY). Some people with Klinefelter syndrome have the extra X chromosome in only some of their cells; these people are said to have mosaic Klinefelter syndrome. It is estimated that about half of the time, the cell division error occurs during development of the sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased chance of having offspring with this syndrome. The features of Klinefelter syndrome are due to the extra copies of genes on the extra X chromosome, which can alter male sexual development.
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Is Klinefelter syndrome inherited ?
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Is Klinefelter syndrome inherited? Klinefelter syndrome is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these reproductive cells contributes to the genetic makeup of a child, the child will have one or several extra X chromosomes in each of the body's cells.
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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 Klinefelter syndrome inherited ? assistant Is Klinefelter syndrome inherited? Klinefelter syndrome is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these reproductive cells contributes to the genetic makeup of a child, the child will have one or several extra X chromosomes in each of the body's cells.
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How to diagnose Klinefelter syndrome ?
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How is Klinefelter syndrome diagnosed? A diagnosis of Klinefelter syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally includes a chromosomal analysis (called a karyotype). It is also possible to diagnosis Klinefelter syndrome before birth through chorionic villous sampling or amniocentesis.
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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 Klinefelter syndrome ? assistant How is Klinefelter syndrome diagnosed? A diagnosis of Klinefelter syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally includes a chromosomal analysis (called a karyotype). It is also possible to diagnosis Klinefelter syndrome before birth through chorionic villous sampling or amniocentesis.
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What are the treatments for Klinefelter syndrome ?
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How might Klinefelter syndrome be treated? Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person. This may include: Educational interventions - As children, many people with Klinefelter syndrome qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps. Therapeutic options - A variety of therapists, such as physical, speech, occupational, behavioral, mental health, and family therapists can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence. Medical management - About half of people with KS have low testosterone levels, which may be raised by taking supplemental testosterone. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair. Many healthcare providers recommend testosterone therapy when a boy reaches puberty. However, not all males with KS benefit from testosterone therapy. Some affected people may opt to have breast removal or reduction surgery. The Eunice Kennedy Shriver National Institute of Child Health and Human Development's Web site offers more specific information on the treatment and management of Klinefelter syndrome. Please click on the link to access this resource.
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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 Klinefelter syndrome ? assistant How might Klinefelter syndrome be treated? Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person. This may include: Educational interventions - As children, many people with Klinefelter syndrome qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps. Therapeutic options - A variety of therapists, such as physical, speech, occupational, behavioral, mental health, and family therapists can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence. Medical management - About half of people with KS have low testosterone levels, which may be raised by taking supplemental testosterone. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair. Many healthcare providers recommend testosterone therapy when a boy reaches puberty. However, not all males with KS benefit from testosterone therapy. Some affected people may opt to have breast removal or reduction surgery. The Eunice Kennedy Shriver National Institute of Child Health and Human Development's Web site offers more specific information on the treatment and management of Klinefelter syndrome. Please click on the link to access this resource.
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What is (are) Juvenile spondyloarthropathy ?
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Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints (between the pelvis and the spine) and spinal joints some years later. Signs and symptoms may include pain and swelling of the affected entheses and joints that may be misdiagnosed and treated as an injury. The underlying cause of juvenile spondyloarthropathy is currently unknown; however, the condition is strongly associated with HLA-B27. Some cases appear to occur sporadically while other affected people have a family history of arthritis, or other related condition. Treatment varies based on the type of juvenile spondyloarthropathy but may include various 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) Juvenile spondyloarthropathy ? assistant Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints (between the pelvis and the spine) and spinal joints some years later. Signs and symptoms may include pain and swelling of the affected entheses and joints that may be misdiagnosed and treated as an injury. The underlying cause of juvenile spondyloarthropathy is currently unknown; however, the condition is strongly associated with HLA-B27. Some cases appear to occur sporadically while other affected people have a family history of arthritis, or other related condition. Treatment varies based on the type of juvenile spondyloarthropathy but may include various medications.
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What is (are) Borjeson-Forssman-Lehmann syndrome ?
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Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.
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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) Borjeson-Forssman-Lehmann syndrome ? assistant Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.
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What are the symptoms of Borjeson-Forssman-Lehmann syndrome ?
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What are the signs and symptoms of Borjeson-Forssman-Lehmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Borjeson-Forssman-Lehmann 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 hair quantity 90% Broad foot 90% Camptodactyly of toe 90% Coarse facial features 90% Cognitive impairment 90% Cryptorchidism 90% Gynecomastia 90% Hypoplasia of penis 90% Large earlobe 90% Muscular hypotonia 90% Scrotal hypoplasia 90% Short toe 90% Tapered finger 90% Truncal obesity 90% Blepharophimosis 50% Deeply set eye 50% Prominent supraorbital ridges 50% Ptosis 50% Thick eyebrow 50% Abnormality of the hip bone 7.5% Cataract 7.5% Hearing impairment 7.5% Joint hypermobility 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Oral cleft 7.5% Peripheral neuropathy 7.5% Seizures 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Cervical spinal canal stenosis - Delayed puberty - EEG abnormality - Hypoplasia of the prostate - Intellectual disability, severe - Kyphosis - Macrotia - Micropenis - Obesity - Scheuermann-like vertebral changes - Scoliosis - Shortening of all distal phalanges of the fingers - Shortening of all middle phalanges of the fingers - Thickened calvaria - Visual impairment - Widely spaced toes - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 Borjeson-Forssman-Lehmann syndrome ? assistant What are the signs and symptoms of Borjeson-Forssman-Lehmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Borjeson-Forssman-Lehmann 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 hair quantity 90% Broad foot 90% Camptodactyly of toe 90% Coarse facial features 90% Cognitive impairment 90% Cryptorchidism 90% Gynecomastia 90% Hypoplasia of penis 90% Large earlobe 90% Muscular hypotonia 90% Scrotal hypoplasia 90% Short toe 90% Tapered finger 90% Truncal obesity 90% Blepharophimosis 50% Deeply set eye 50% Prominent supraorbital ridges 50% Ptosis 50% Thick eyebrow 50% Abnormality of the hip bone 7.5% Cataract 7.5% Hearing impairment 7.5% Joint hypermobility 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Oral cleft 7.5% Peripheral neuropathy 7.5% Seizures 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Cervical spinal canal stenosis - Delayed puberty - EEG abnormality - Hypoplasia of the prostate - Intellectual disability, severe - Kyphosis - Macrotia - Micropenis - Obesity - Scheuermann-like vertebral changes - Scoliosis - Shortening of all distal phalanges of the fingers - Shortening of all middle phalanges of the fingers - Thickened calvaria - Visual impairment - Widely spaced toes - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What is (are) Lactate dehydrogenase deficiency ?
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Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. People with lactate dehydrogenase A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). People with lactate dehydrogenase B deficiency typically do not have symptoms. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. Lactate dehydrogenase B deficiency is caused by mutations in the LDHB gene. Both types are 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) Lactate dehydrogenase deficiency ? assistant Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. People with lactate dehydrogenase A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). People with lactate dehydrogenase B deficiency typically do not have symptoms. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. Lactate dehydrogenase B deficiency is caused by mutations in the LDHB gene. Both types are inherited in an autosomal recessive pattern.
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What are the symptoms of Dermatoleukodystrophy ?
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What are the signs and symptoms of Dermatoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hyperkeratosis 90% Morphological abnormality of the central nervous system 90% Hyperreflexia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Large hands - Leukodystrophy - Long foot - Macrotia - Premature skin wrinkling - Progeroid facial appearance - Prominent nose - Thickened 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 Dermatoleukodystrophy ? assistant What are the signs and symptoms of Dermatoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hyperkeratosis 90% Morphological abnormality of the central nervous system 90% Hyperreflexia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Large hands - Leukodystrophy - Long foot - Macrotia - Premature skin wrinkling - Progeroid facial appearance - Prominent nose - Thickened 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 are the symptoms of Progressive familial heart block type 1A ?
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What are the signs and symptoms of Progressive familial heart block type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial heart block type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 50% Autosomal dominant inheritance - Complete heart block with broad RS complexes - Dyspnea - Heterogeneous - Left anterior fascicular block - Left postterior fascicular block - Right bundle branch block - Sudden cardiac death - Sudden death - Syncope - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Progressive familial heart block type 1A ? assistant What are the signs and symptoms of Progressive familial heart block type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial heart block type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 50% Autosomal dominant inheritance - Complete heart block with broad RS complexes - Dyspnea - Heterogeneous - Left anterior fascicular block - Left postterior fascicular block - Right bundle branch block - Sudden cardiac death - Sudden death - Syncope - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Bardet-Biedl syndrome 10 ?
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What are the signs and symptoms of Bardet-Biedl syndrome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Bardet-Biedl syndrome 10 ? assistant What are the signs and symptoms of Bardet-Biedl syndrome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Sulfite oxidase deficiency ?
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What are the signs and symptoms of Sulfite oxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Sulfite oxidase 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) Agitation - Ataxia - Autosomal recessive inheritance - Choreoathetosis - Death in infancy - Decreased urinary sulfate - Delayed eruption of teeth - Ectopia lentis - Eczema - Fine hair - Generalized dystonia - Hemiplegia - Hypertonia - Increased urinary sulfite - Infantile muscular hypotonia - Seizures - Sulfite oxidase deficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Sulfite oxidase deficiency ? assistant What are the signs and symptoms of Sulfite oxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Sulfite oxidase 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) Agitation - Ataxia - Autosomal recessive inheritance - Choreoathetosis - Death in infancy - Decreased urinary sulfate - Delayed eruption of teeth - Ectopia lentis - Eczema - Fine hair - Generalized dystonia - Hemiplegia - Hypertonia - Increased urinary sulfite - Infantile muscular hypotonia - Seizures - Sulfite oxidase deficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Sideroblastic anemia pyridoxine-refractory autosomal recessive ?
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Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with this anemia. It is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Unlike other forms of sideroblastic anemia, this form is not responsive to vitamin B6 (pyridoxine).
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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) Sideroblastic anemia pyridoxine-refractory autosomal recessive ? assistant Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with this anemia. It is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Unlike other forms of sideroblastic anemia, this form is not responsive to vitamin B6 (pyridoxine).
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What are the symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive ?
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What are the signs and symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales. Some people with sideroblastic anemia develop diabetes or abnormal glucose tolerance which may or may not be related to the degree of iron overload. The most dangerous complication of iron overload are heart arrhythmias and heart failure, which usually occur late in the course of the disease. In severely affected children, growth and development may be affected. In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years. However, in some individuals there is an unexplained progression of the anemia over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Sideroblastic anemia pyridoxine-refractory autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Autosomal recessive inheritance - Heterogeneous - Increased serum ferritin - Infantile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Sideroblastic anemia pyridoxine-refractory autosomal recessive ? assistant What are the signs and symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales. Some people with sideroblastic anemia develop diabetes or abnormal glucose tolerance which may or may not be related to the degree of iron overload. The most dangerous complication of iron overload are heart arrhythmias and heart failure, which usually occur late in the course of the disease. In severely affected children, growth and development may be affected. In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years. However, in some individuals there is an unexplained progression of the anemia over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Sideroblastic anemia pyridoxine-refractory autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Autosomal recessive inheritance - Heterogeneous - Increased serum ferritin - Infantile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Sideroblastic anemia pyridoxine-refractory autosomal recessive ?
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What causes sideroblastic anemia pyridoxine-refractory autosomal recessive? Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Sideroblastic anemia pyridoxine-refractory autosomal recessive ? assistant What causes sideroblastic anemia pyridoxine-refractory autosomal recessive? Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance.
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What are the treatments for Sideroblastic anemia pyridoxine-refractory autosomal recessive ?
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How might sideroblastic anemia pyridoxine-refractory autosomal recessive be treated? Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. Treatments are aimed at preventing organ damage from iron overload, and controlling symptoms of anemia. People with severe anemia may require periodic transfusions. Transfusions of red cells are kept to a minimum, to avoid accelerating iron overload. Treatment of iron overload involves an iron depletion program, such as therapeutic phlebotomy or iron chelation. Total splenectomy is contraindicated in this disorder. This form of sideroblastic anemia is not associated with an increased risk for leukemia. A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered. All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.
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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 Sideroblastic anemia pyridoxine-refractory autosomal recessive ? assistant How might sideroblastic anemia pyridoxine-refractory autosomal recessive be treated? Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. Treatments are aimed at preventing organ damage from iron overload, and controlling symptoms of anemia. People with severe anemia may require periodic transfusions. Transfusions of red cells are kept to a minimum, to avoid accelerating iron overload. Treatment of iron overload involves an iron depletion program, such as therapeutic phlebotomy or iron chelation. Total splenectomy is contraindicated in this disorder. This form of sideroblastic anemia is not associated with an increased risk for leukemia. A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered. All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.
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What are the symptoms of Agammaglobulinemia, non-Bruton type ?
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What are the signs and symptoms of Agammaglobulinemia, non-Bruton type? The Human Phenotype Ontology provides the following list of signs and symptoms for Agammaglobulinemia, non-Bruton 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) Agammaglobulinemia - Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Crohn's disease - Diarrhea - Failure to thrive - Infantile onset - Neutropenia - Recurrent bacterial infections - Recurrent enteroviral infections - 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 Agammaglobulinemia, non-Bruton type ? assistant What are the signs and symptoms of Agammaglobulinemia, non-Bruton type? The Human Phenotype Ontology provides the following list of signs and symptoms for Agammaglobulinemia, non-Bruton 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) Agammaglobulinemia - Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Crohn's disease - Diarrhea - Failure to thrive - Infantile onset - Neutropenia - Recurrent bacterial infections - Recurrent enteroviral infections - 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 is (are) Majeed syndrome ?
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Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 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) Majeed syndrome ? assistant Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 gene. This condition is inherited in an autosomal recessive pattern.
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What are the symptoms of Majeed syndrome ?
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What are the signs and symptoms of Majeed syndrome? Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. These symptoms begin in infancy or early childhood and typically persist into adulthood, although there may be short periods of improvement. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints. Congenital dyserythropoietic anemia is a blood disorder which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms. The Human Phenotype Ontology provides the following list of signs and symptoms for Majeed syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Abnormality of the metaphyses 90% Arthralgia 90% Bone pain 90% Microcytic anemia 90% Osteomyelitis 90% Pustule 90% Skin rash 90% Weight loss 90% Acne 50% Arthritis 50% Edema 50% Hepatomegaly 50% Hyperostosis 50% Leukocytosis 50% Migraine 50% Myalgia 50% Splenomegaly 50% Abnormal blistering of the skin 7.5% Abnormality of bone mineral density 7.5% Flexion contracture 7.5% Glomerulopathy 7.5% Hematuria 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Proteinuria 7.5% Pulmonary infiltrates 7.5% Recurrent fractures 7.5% Vasculitis 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 Majeed syndrome ? assistant What are the signs and symptoms of Majeed syndrome? Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. These symptoms begin in infancy or early childhood and typically persist into adulthood, although there may be short periods of improvement. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints. Congenital dyserythropoietic anemia is a blood disorder which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms. The Human Phenotype Ontology provides the following list of signs and symptoms for Majeed syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Abnormality of the metaphyses 90% Arthralgia 90% Bone pain 90% Microcytic anemia 90% Osteomyelitis 90% Pustule 90% Skin rash 90% Weight loss 90% Acne 50% Arthritis 50% Edema 50% Hepatomegaly 50% Hyperostosis 50% Leukocytosis 50% Migraine 50% Myalgia 50% Splenomegaly 50% Abnormal blistering of the skin 7.5% Abnormality of bone mineral density 7.5% Flexion contracture 7.5% Glomerulopathy 7.5% Hematuria 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Proteinuria 7.5% Pulmonary infiltrates 7.5% Recurrent fractures 7.5% Vasculitis 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 Majeed syndrome ?
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What causes Majeed syndrome? Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Majeed syndrome ? assistant What causes Majeed syndrome? Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.
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Is Majeed syndrome inherited ?
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How is Majeed syndrome inherited? Majeed syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis.
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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 Majeed syndrome inherited ? assistant How is Majeed syndrome inherited? Majeed syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis.
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What are the treatments for Majeed syndrome ?
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How might Majeed syndrome be treated? Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroids can be used short term to control CRMO and skin manifestations. Resolution of bone inflammation has been reported in at least two children who were treated with an IL-1 inhibitor. Congenital dyserythropoietic anemia (CDA) may be treated with red blood cell transfusion.
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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 Majeed syndrome ? assistant How might Majeed syndrome be treated? Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroids can be used short term to control CRMO and skin manifestations. Resolution of bone inflammation has been reported in at least two children who were treated with an IL-1 inhibitor. Congenital dyserythropoietic anemia (CDA) may be treated with red blood cell transfusion.
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What are the symptoms of Hairy palms and soles ?
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What are the signs and symptoms of Hairy palms and soles? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy palms and soles. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Hypermelanotic macule - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Hairy palms and soles ? assistant What are the signs and symptoms of Hairy palms and soles? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy palms and soles. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Hypermelanotic macule - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Dextrocardia with situs inversus ?
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Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.
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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) Dextrocardia with situs inversus ? assistant Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.
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What causes Dextrocardia with situs inversus ?
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What causes dextrocardia with situs inversus? The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the body. However, a specific genetic cause of dextrocardia with situs inversus has not been identified and inheritance patterns have not been confirmed in most cases. Some people have dextrocardia with situs inversus as part of an underlying condition called primary ciliary dyskinesia. Primary ciliary dyskinesia can result from changes (mutations) in several different genes, including the DNAI1 and DNAH5 gene; however, the genetic cause is unknown in many families.
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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 Dextrocardia with situs inversus ? assistant What causes dextrocardia with situs inversus? The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the body. However, a specific genetic cause of dextrocardia with situs inversus has not been identified and inheritance patterns have not been confirmed in most cases. Some people have dextrocardia with situs inversus as part of an underlying condition called primary ciliary dyskinesia. Primary ciliary dyskinesia can result from changes (mutations) in several different genes, including the DNAI1 and DNAH5 gene; however, the genetic cause is unknown in many families.
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Is Dextrocardia with situs inversus inherited ?
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Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition 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 Dextrocardia with situs inversus inherited ? assistant Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
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How to diagnose Dextrocardia with situs inversus ?
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How is dextrocardia with situs inversus diagnosed? In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. Computed tomography (CT) scanning is typically the preferred examination to confirm the diagnosis of dextrocardia with situs inversus. Magnetic resonance imaging may be substituted in cases that are associated with congenital heart defects.
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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 Dextrocardia with situs inversus ? assistant How is dextrocardia with situs inversus diagnosed? In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. Computed tomography (CT) scanning is typically the preferred examination to confirm the diagnosis of dextrocardia with situs inversus. Magnetic resonance imaging may be substituted in cases that are associated with congenital heart defects.
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What are the treatments for Dextrocardia with situs inversus ?
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How might dextrocardia with situs inversus be treated? Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. For example, infants born with congenital heart defects or other organ malformations may require surgery. The management of people affected by Kartagener syndrome typically includes measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial infections. GeneReviews offers more specific information on the treatment of Kartagener syndrome and other types of primary ciliary dyskinesia. Please click on the link to access this resource.
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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 Dextrocardia with situs inversus ? assistant How might dextrocardia with situs inversus be treated? Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. For example, infants born with congenital heart defects or other organ malformations may require surgery. The management of people affected by Kartagener syndrome typically includes measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial infections. GeneReviews offers more specific information on the treatment of Kartagener syndrome and other types of primary ciliary dyskinesia. Please click on the link to access this resource.
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What are the symptoms of Chudley Rozdilsky syndrome ?
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What are the signs and symptoms of Chudley Rozdilsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley Rozdilsky 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 hair quantity 90% Abnormality of the palate 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Delayed skeletal maturation 90% Disproportionate tall stature 90% Facial palsy 90% Hyperlordosis 90% Hypertelorism 90% Hypoplasia of penis 90% Myopia 90% Ophthalmoparesis 90% Ptosis 90% Short stature 90% Skeletal muscle atrophy 90% Abnormality of the hip bone 50% Abnormality of the pinna 50% Limitation of joint mobility 50% Microcephaly 50% Prominent nasal bridge 50% Abnormality of the ribs 7.5% Facial asymmetry 7.5% Pectus carinatum 7.5% Tracheoesophageal fistula 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Hypogonadotrophic hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Lumbar hyperlordosis - Myopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Chudley Rozdilsky syndrome ? assistant What are the signs and symptoms of Chudley Rozdilsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley Rozdilsky 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 hair quantity 90% Abnormality of the palate 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Delayed skeletal maturation 90% Disproportionate tall stature 90% Facial palsy 90% Hyperlordosis 90% Hypertelorism 90% Hypoplasia of penis 90% Myopia 90% Ophthalmoparesis 90% Ptosis 90% Short stature 90% Skeletal muscle atrophy 90% Abnormality of the hip bone 50% Abnormality of the pinna 50% Limitation of joint mobility 50% Microcephaly 50% Prominent nasal bridge 50% Abnormality of the ribs 7.5% Facial asymmetry 7.5% Pectus carinatum 7.5% Tracheoesophageal fistula 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Hypogonadotrophic hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Lumbar hyperlordosis - Myopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Tracheobronchopathia osteoplastica ?
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Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. Affected people may have persisting or recurrent respiratory symptoms, and/or recurrent infections. The cause of TO is not currently known. There is no specific treatment to prevent the formation of nodules. Laser therapy or removal of the nodules may be needed in some 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) Tracheobronchopathia osteoplastica ? assistant Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. Affected people may have persisting or recurrent respiratory symptoms, and/or recurrent infections. The cause of TO is not currently known. There is no specific treatment to prevent the formation of nodules. Laser therapy or removal of the nodules may be needed in some cases.
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What are the symptoms of Tracheobronchopathia osteoplastica ?
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What are the signs and symptoms of Tracheobronchopathia osteoplastica? Symptoms of tracheobronchopathia osteoplastica (TO) may be absent or non-specific. Affected people may have various respiratory symptoms such as cough, wheezing, coughing up blood (hemoptysis), and/or recurrent upper airway infections. Stridor and low-pitched wheezing may occur if there is severe airway obstruction. In some cases, obstruction of the lobar bronchi can cause recurrent atelectasis (collapse of the lung) or pneumonia. Nodules seem to remain stable over years, or progress at a very slow rate. It is thought that over 90% of cases are diagnosed incidentally on autopsy. Rapid progression has been reported rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheobronchopathia osteoplastica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 skeletal system - Autosomal dominant inheritance - Cough - Dyspnea - Hemoptysis - Hoarse voice - Recurrent pneumonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Tracheobronchopathia osteoplastica ? assistant What are the signs and symptoms of Tracheobronchopathia osteoplastica? Symptoms of tracheobronchopathia osteoplastica (TO) may be absent or non-specific. Affected people may have various respiratory symptoms such as cough, wheezing, coughing up blood (hemoptysis), and/or recurrent upper airway infections. Stridor and low-pitched wheezing may occur if there is severe airway obstruction. In some cases, obstruction of the lobar bronchi can cause recurrent atelectasis (collapse of the lung) or pneumonia. Nodules seem to remain stable over years, or progress at a very slow rate. It is thought that over 90% of cases are diagnosed incidentally on autopsy. Rapid progression has been reported rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheobronchopathia osteoplastica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 skeletal system - Autosomal dominant inheritance - Cough - Dyspnea - Hemoptysis - Hoarse voice - Recurrent pneumonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Tracheobronchopathia osteoplastica ?
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What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases have been reported in association with different conditions including allergic rhinitis. However, no theories have been validated. There is no known genetic susceptibility to the development of TO.
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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 Tracheobronchopathia osteoplastica ? assistant What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases have been reported in association with different conditions including allergic rhinitis. However, no theories have been validated. There is no known genetic susceptibility to the development of TO.
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Is Tracheobronchopathia osteoplastica inherited ?
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Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter.
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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 Tracheobronchopathia osteoplastica inherited ? assistant Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter.
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How to diagnose Tracheobronchopathia osteoplastica ?
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How is tracheobronchopathia osteoplastica diagnosed? Fiberoptic bronchoscopy is thought to be the best procedure to diagnose tracheobronchopathia osteoplastica (TO). This procedure is done when it is important to see the airways or to get samples of mucus or tissue from the lungs. It involves placing a thin, tube-like instrument through the nose or mouth and down into the lungs. During this procedure a bronchial biopsy is usually performed, but samples are sometimes hard to obtain. TO is usually an incidental finding during fiberoptic bronchoscopy, and is rarely suspected before the procedure is done.
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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 Tracheobronchopathia osteoplastica ? assistant How is tracheobronchopathia osteoplastica diagnosed? Fiberoptic bronchoscopy is thought to be the best procedure to diagnose tracheobronchopathia osteoplastica (TO). This procedure is done when it is important to see the airways or to get samples of mucus or tissue from the lungs. It involves placing a thin, tube-like instrument through the nose or mouth and down into the lungs. During this procedure a bronchial biopsy is usually performed, but samples are sometimes hard to obtain. TO is usually an incidental finding during fiberoptic bronchoscopy, and is rarely suspected before the procedure is done.
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What are the treatments for Tracheobronchopathia osteoplastica ?
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How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study. Occasionally, tracheostomy may be needed. Surgical treatment options may be considered when all conservative therapies have been unsuccessful. The long-term outlook (prognosis) for affected people is generally good, but usually depends on the extension and location of the lesions. It has been reported that over 55% of affected people do not have any disease progression following 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: What are the treatments for Tracheobronchopathia osteoplastica ? assistant How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study. Occasionally, tracheostomy may be needed. Surgical treatment options may be considered when all conservative therapies have been unsuccessful. The long-term outlook (prognosis) for affected people is generally good, but usually depends on the extension and location of the lesions. It has been reported that over 55% of affected people do not have any disease progression following the diagnosis.
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What are the symptoms of Carney triad ?
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What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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% Diarrhea 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Neoplasm of the lung 90% Neoplasm of the stomach 90% Neuroendocrine neoplasm 90% Sarcoma 90% Abnormality of the liver 50% Abnormality of the mediastinum 50% Ascites 50% Hypercortisolism 50% Anemia 7.5% Anorexia 7.5% Arrhythmia 7.5% Hypertension 7.5% Lymphadenopathy 7.5% Migraine 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 Carney triad ? assistant What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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% Diarrhea 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Neoplasm of the lung 90% Neoplasm of the stomach 90% Neuroendocrine neoplasm 90% Sarcoma 90% Abnormality of the liver 50% Abnormality of the mediastinum 50% Ascites 50% Hypercortisolism 50% Anemia 7.5% Anorexia 7.5% Arrhythmia 7.5% Hypertension 7.5% Lymphadenopathy 7.5% Migraine 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 Woodhouse Sakati syndrome ?
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What are the signs and symptoms of Woodhouse Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woodhouse Sakati syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the genital system 90% Arrhythmia 90% Cognitive impairment 90% Hearing impairment 90% Type I diabetes mellitus 90% Anodontia 5% Hallucinations 5% Prominent nasal bridge 5% Protruding ear 5% Psychosis 5% Triangular face 5% Abnormality of extrapyramidal motor function - Alopecia - Autosomal recessive inheritance - Choreoathetosis - Decreased serum testosterone level - Decreased testicular size - Diabetes mellitus - Dysarthria - Dystonia - EKG: T-wave abnormalities - Fine hair - Hypergonadotropic hypogonadism - Hyperlipidemia - Hypogonadotrophic hypogonadism - Hypoplasia of the fallopian tube - Hypoplasia of the uterus - Intellectual disability - Micropenis - Phenotypic variability - Primary ovarian failure - Sensorineural hearing impairment - Sparse hair - Thyroid-stimulating hormone excess - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Woodhouse Sakati syndrome ? assistant What are the signs and symptoms of Woodhouse Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woodhouse Sakati syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the genital system 90% Arrhythmia 90% Cognitive impairment 90% Hearing impairment 90% Type I diabetes mellitus 90% Anodontia 5% Hallucinations 5% Prominent nasal bridge 5% Protruding ear 5% Psychosis 5% Triangular face 5% Abnormality of extrapyramidal motor function - Alopecia - Autosomal recessive inheritance - Choreoathetosis - Decreased serum testosterone level - Decreased testicular size - Diabetes mellitus - Dysarthria - Dystonia - EKG: T-wave abnormalities - Fine hair - Hypergonadotropic hypogonadism - Hyperlipidemia - Hypogonadotrophic hypogonadism - Hypoplasia of the fallopian tube - Hypoplasia of the uterus - Intellectual disability - Micropenis - Phenotypic variability - Primary ovarian failure - Sensorineural hearing impairment - Sparse hair - Thyroid-stimulating hormone excess - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Hypercholesterolemia, autosomal dominant ?
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What are the signs and symptoms of Hypercholesterolemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypercholesterolemia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Corneal arcus - Coronary artery disease - Hypercholesterolemia - Xanthelasma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Hypercholesterolemia, autosomal dominant ? assistant What are the signs and symptoms of Hypercholesterolemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypercholesterolemia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Corneal arcus - Coronary artery disease - Hypercholesterolemia - Xanthelasma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Keratoconus ?
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Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom is a slight blurring of vision that cannot be corrected with glasses. Over time, there may be eye halos, glare, or other night vision problems.The cause is unknown, but the tendency to develop keratoconus is probably present from birth. Keratoconus is thought to involve a defect in collagen, the tissue that makes up most of the cornea. Some researchers believe that allergy and eye rubbing may play a role. Treatment for keratoconus depends on the severity of your condition and how quickly the condition is progressing. Mild to moderate keratoconus can be treated with eyeglasses or contact lenses. In some people the cornea becomes scarred or wearing contact lenses becomes difficult. In these cases, surgery might be necessary.
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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) Keratoconus ? assistant Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom is a slight blurring of vision that cannot be corrected with glasses. Over time, there may be eye halos, glare, or other night vision problems.The cause is unknown, but the tendency to develop keratoconus is probably present from birth. Keratoconus is thought to involve a defect in collagen, the tissue that makes up most of the cornea. Some researchers believe that allergy and eye rubbing may play a role. Treatment for keratoconus depends on the severity of your condition and how quickly the condition is progressing. Mild to moderate keratoconus can be treated with eyeglasses or contact lenses. In some people the cornea becomes scarred or wearing contact lenses becomes difficult. In these cases, surgery might be necessary.
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What are the symptoms of Keratoconus ?
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What are the signs and symptoms of Keratoconus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Astigmatism - Autosomal dominant inheritance - Heterogeneous - Keratoconus - Young adult onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Keratoconus ? assistant What are the signs and symptoms of Keratoconus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Astigmatism - Autosomal dominant inheritance - Heterogeneous - Keratoconus - Young adult onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Keratoconus ?
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What causes keratoconus? The exact cause of keratoconus is unknown. Both genetic and environmental factors may play a role in the development of keratoconus. The genetic factors involve abnormalities in the structure of collagen, which result in a weak and flexible cornea. Keratoconus is more common in people with Down syndrome, Marfan syndrome, and Leber congenital amaurosis, and certain genetic conditions. In these cases, the cause depends on the specific condition. Environmental factors may include living in sunny, hot areas of the world, while eye-rubbing is a major behavioral factor in the disease. Malfunctioning enzymes that normally help maintain the health of the cornea may play a role. All of these factors contribute to the main problem in keratoconus, which is the defective collagen structure that results in thinning and irregularity of the cornea. Keratoconus occurs more frequently in patients with atopy (asthma and eczema) or severe ocular allergies. It may also be linked to hormonal factors because it is more frequent during puberty and also may progress during pregnancy.
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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 Keratoconus ? assistant What causes keratoconus? The exact cause of keratoconus is unknown. Both genetic and environmental factors may play a role in the development of keratoconus. The genetic factors involve abnormalities in the structure of collagen, which result in a weak and flexible cornea. Keratoconus is more common in people with Down syndrome, Marfan syndrome, and Leber congenital amaurosis, and certain genetic conditions. In these cases, the cause depends on the specific condition. Environmental factors may include living in sunny, hot areas of the world, while eye-rubbing is a major behavioral factor in the disease. Malfunctioning enzymes that normally help maintain the health of the cornea may play a role. All of these factors contribute to the main problem in keratoconus, which is the defective collagen structure that results in thinning and irregularity of the cornea. Keratoconus occurs more frequently in patients with atopy (asthma and eczema) or severe ocular allergies. It may also be linked to hormonal factors because it is more frequent during puberty and also may progress during pregnancy.
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What are the symptoms of Spinocerebellar ataxia 26 ?
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What are the signs and symptoms of Spinocerebellar ataxia 26? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 26. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Impaired horizontal smooth pursuit - Incoordination - Limb ataxia - Nystagmus - Slow progression - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spinocerebellar ataxia 26 ? assistant What are the signs and symptoms of Spinocerebellar ataxia 26? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 26. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Impaired horizontal smooth pursuit - Incoordination - Limb ataxia - Nystagmus - Slow progression - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What is (are) Acute alcohol sensitivity ?
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Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate.[9184] The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.
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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) Acute alcohol sensitivity ? assistant Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate.[9184] The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.
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What are the symptoms of Acute alcohol sensitivity ?
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What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed oxidation of acetaldehyde - Facial flushing after alcohol intake - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Acute alcohol sensitivity ? assistant What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed oxidation of acetaldehyde - Facial flushing after alcohol intake - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 RHYNS syndrome ?
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What are the signs and symptoms of RHYNS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for RHYNS 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) Conductive hearing impairment - Deeply set eye - Growth hormone deficiency - Nephronophthisis - Pituitary hypothyroidism - Ptosis - Renal insufficiency - Rod-cone dystrophy - Skeletal 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 RHYNS syndrome ? assistant What are the signs and symptoms of RHYNS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for RHYNS 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) Conductive hearing impairment - Deeply set eye - Growth hormone deficiency - Nephronophthisis - Pituitary hypothyroidism - Ptosis - Renal insufficiency - Rod-cone dystrophy - Skeletal 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 are the symptoms of Multiple pterygium syndrome X-linked ?
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What are the signs and symptoms of Multiple pterygium syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cervical curvature - Abnormal facial shape - Amyoplasia - Cleft palate - Cleft upper lip - Cystic hygroma - Depressed nasal ridge - Edema - Epicanthus - Fetal akinesia sequence - Flexion contracture - Hypertelorism - Hypoplastic heart - Increased susceptibility to fractures - Intrauterine growth retardation - Joint dislocation - Low-set ears - Malignant hyperthermia - Multiple pterygia - Polyhydramnios - Pulmonary hypoplasia - Short finger - Thin ribs - Vertebral fusion - 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 Multiple pterygium syndrome X-linked ? assistant What are the signs and symptoms of Multiple pterygium syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cervical curvature - Abnormal facial shape - Amyoplasia - Cleft palate - Cleft upper lip - Cystic hygroma - Depressed nasal ridge - Edema - Epicanthus - Fetal akinesia sequence - Flexion contracture - Hypertelorism - Hypoplastic heart - Increased susceptibility to fractures - Intrauterine growth retardation - Joint dislocation - Low-set ears - Malignant hyperthermia - Multiple pterygia - Polyhydramnios - Pulmonary hypoplasia - Short finger - Thin ribs - Vertebral fusion - 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 Deafness conductive ptosis skeletal anomalies ?
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What are the signs and symptoms of Deafness conductive ptosis skeletal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness conductive ptosis skeletal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the hip bone 90% Atresia of the external auditory canal 90% Blepharophimosis 90% Clinodactyly of the 5th finger 90% Conductive hearing impairment 90% Elbow dislocation 90% Epicanthus 90% Fine hair 90% Narrow nasal bridge 90% Ptosis 90% Abnormality of the palate 50% Myopia 50% Single transverse palmar crease 50% Autosomal recessive inheritance - Chronic otitis media - Ectodermal 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 Deafness conductive ptosis skeletal anomalies ? assistant What are the signs and symptoms of Deafness conductive ptosis skeletal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness conductive ptosis skeletal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the hip bone 90% Atresia of the external auditory canal 90% Blepharophimosis 90% Clinodactyly of the 5th finger 90% Conductive hearing impairment 90% Elbow dislocation 90% Epicanthus 90% Fine hair 90% Narrow nasal bridge 90% Ptosis 90% Abnormality of the palate 50% Myopia 50% Single transverse palmar crease 50% Autosomal recessive inheritance - Chronic otitis media - Ectodermal 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) Dopa-responsive dystonia ?
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Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to the upper limbs over time. Symptoms may include unusual limb positioning; a lack of coordination when walking or running; sleep problems; and episodes of depression. Affected people also often develop a group of movement abnormalities called parkinsonism. Although movement difficulties usually worsen with age, they often stabilize around age 30. DRD may be caused by mutations in the GCH1, TH or SPR genes, or the cause may be unknown. Depending on the genetic cause, DRD may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. This form of dystonia is called 'dopa-responsive' dystonia because the symptoms typically improve during treatment with levodopa and carbidopa.
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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) Dopa-responsive dystonia ? assistant Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to the upper limbs over time. Symptoms may include unusual limb positioning; a lack of coordination when walking or running; sleep problems; and episodes of depression. Affected people also often develop a group of movement abnormalities called parkinsonism. Although movement difficulties usually worsen with age, they often stabilize around age 30. DRD may be caused by mutations in the GCH1, TH or SPR genes, or the cause may be unknown. Depending on the genetic cause, DRD may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. This form of dystonia is called 'dopa-responsive' dystonia because the symptoms typically improve during treatment with levodopa and carbidopa.
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What are the symptoms of Dopa-responsive dystonia ?
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What are the signs and symptoms of Dopa-responsive dystonia? The most common form of dopa-responsive dystonia (DRD) is autosomal dominant DRD (caused by a mutation in the GCH1 gene). This form of DRD is usually characterized by childhood-onset dystonia that may be associated with parkinsonism at an older age. The average age of onset is 6 years, and females are 2-4 times more likely than males to be affected. Symptoms usually begin with lower limb dystonia, resulting in gait problems that can cause stumbling and falling. Symptoms are often worse later in the day, a phenomenon known as diurnal fluctuation. In rare cases, the first symptom may be arm dystonia, tremor of the hands, slowness of movements, or cervical dystonia. This form of DRD usually progresses to affect the whole body, and some people also develop parkinsonism. Depression, anxiety, sleep disturbances and obsessive-compulsive disorder have been reported in some people. Intellectual function is normal. Those with onset at older ages tend to be more mildly affected. Another form of DRD is due to a rare condition called sepiapterin reductase deficiency, which is inherited in an autosomal recessive manner. This form of DRD is also characterized by dystonia with diurnal fluctuations, but also affects motor and cognitive development. Onset usually occurs before the first year of life. Sleep disturbances and psychological symptoms (anxiety, irritability) are common later in childhood. A third form of DRD is autosomal recessive DRD, also called tyrosine hydroxylase deficiency. This form is characterized by a spectrum of symptoms, ranging from those seen in the autosomal dominant form to progressive infantile encephalopathy. Onset is usually in infancy. Intellectual disability, developmental motor delay, and various other features may be present. The Human Phenotype Ontology provides the following list of signs and symptoms for Dopa-responsive dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hypertonia 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 Dopa-responsive dystonia ? assistant What are the signs and symptoms of Dopa-responsive dystonia? The most common form of dopa-responsive dystonia (DRD) is autosomal dominant DRD (caused by a mutation in the GCH1 gene). This form of DRD is usually characterized by childhood-onset dystonia that may be associated with parkinsonism at an older age. The average age of onset is 6 years, and females are 2-4 times more likely than males to be affected. Symptoms usually begin with lower limb dystonia, resulting in gait problems that can cause stumbling and falling. Symptoms are often worse later in the day, a phenomenon known as diurnal fluctuation. In rare cases, the first symptom may be arm dystonia, tremor of the hands, slowness of movements, or cervical dystonia. This form of DRD usually progresses to affect the whole body, and some people also develop parkinsonism. Depression, anxiety, sleep disturbances and obsessive-compulsive disorder have been reported in some people. Intellectual function is normal. Those with onset at older ages tend to be more mildly affected. Another form of DRD is due to a rare condition called sepiapterin reductase deficiency, which is inherited in an autosomal recessive manner. This form of DRD is also characterized by dystonia with diurnal fluctuations, but also affects motor and cognitive development. Onset usually occurs before the first year of life. Sleep disturbances and psychological symptoms (anxiety, irritability) are common later in childhood. A third form of DRD is autosomal recessive DRD, also called tyrosine hydroxylase deficiency. This form is characterized by a spectrum of symptoms, ranging from those seen in the autosomal dominant form to progressive infantile encephalopathy. Onset is usually in infancy. Intellectual disability, developmental motor delay, and various other features may be present. The Human Phenotype Ontology provides the following list of signs and symptoms for Dopa-responsive dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hypertonia 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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Is Dopa-responsive dystonia inherited ?
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How is dopa-responsive dystonia inherited? Depending on the genetic cause of dopa-responsive dystonia (DRD), it may be inherited in an autosomal dominant or autosomal recessive manner. When DRD is caused by mutations in the GCH1 gene, it is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the gene is enough to cause signs and symptoms of the disorder. In some cases, an affected person inherits the mutation from an affected parent; other cases result from having a new (de novo) mutation in the gene. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. Some people who inherit a mutated GCH1 gene never develop features of DRD; this phenomenon is known as reduced penetrance. When DRD is caused by mutations in the TH gene, it is inherited in an autosomal recessive manner. This means that a person must have mutations in both of their copies of the gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one copy of the mutated gene and are referred to as carriers. Carriers typically do not have signs or symptoms. When parents who are both carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier. When DRD is caused by mutations in the SPR gene, it can be inherited in an autosomal recessive or 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: Is Dopa-responsive dystonia inherited ? assistant How is dopa-responsive dystonia inherited? Depending on the genetic cause of dopa-responsive dystonia (DRD), it may be inherited in an autosomal dominant or autosomal recessive manner. When DRD is caused by mutations in the GCH1 gene, it is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the gene is enough to cause signs and symptoms of the disorder. In some cases, an affected person inherits the mutation from an affected parent; other cases result from having a new (de novo) mutation in the gene. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. Some people who inherit a mutated GCH1 gene never develop features of DRD; this phenomenon is known as reduced penetrance. When DRD is caused by mutations in the TH gene, it is inherited in an autosomal recessive manner. This means that a person must have mutations in both of their copies of the gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one copy of the mutated gene and are referred to as carriers. Carriers typically do not have signs or symptoms. When parents who are both carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier. When DRD is caused by mutations in the SPR gene, it can be inherited in an autosomal recessive or autosomal dominant manner.
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How to diagnose Dopa-responsive dystonia ?
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How is dopa-responsive dystonia diagnosed? Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most practical approach to the diagnosis. It is generally agreed that people with childhood-onset dystonia of unknown cause should be treated initially with levodopa. The characteristic symptoms and response to treatment are sufficient to establish the diagnosis for people with the most common form, autosomal dominant DRD. There is only one gene in which mutations are known to cause this form of DRD, but not all people with the disorder are found to have a mutation in the responsible gene. While finding a mutation may provide information about prognosis, it does not alter the treatment. Other types of laboratory tests, such as measuring specific substances or enzymes in the blood or cerebrospinal fluid (CSF), may be useful to support the diagnosis. For tyrosine hydroxylase deficiency, an autosomal recessive genetic cause of DRD, molecular genetic testing has confirmed the presence of mutations in all affected people to date. Specific laboratory tests performed on CSF help support the diagnosis but are not diagnostic on their own. For sepiapterin reductase deficiency, a very rare autosomal recessive form of DRD, there are distinctive findings in CSF and reduced or absent activity of sepiapterin reductase in fibroblasts. Molecular genetic testing can identify mutations in the responsible gene and confirm the diagnosis of this form of DRD. The major conditions that may have a similar presentation to DRD and are part of the differential diagnosis include early-onset parkinsonism, early-onset primary dystonia, and cerebral palsy or spastic paraplegia. People with specific questions about being evaluated for any form of dystonia should speak with a neurologist or other health care provider.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Dopa-responsive dystonia ? assistant How is dopa-responsive dystonia diagnosed? Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most practical approach to the diagnosis. It is generally agreed that people with childhood-onset dystonia of unknown cause should be treated initially with levodopa. The characteristic symptoms and response to treatment are sufficient to establish the diagnosis for people with the most common form, autosomal dominant DRD. There is only one gene in which mutations are known to cause this form of DRD, but not all people with the disorder are found to have a mutation in the responsible gene. While finding a mutation may provide information about prognosis, it does not alter the treatment. Other types of laboratory tests, such as measuring specific substances or enzymes in the blood or cerebrospinal fluid (CSF), may be useful to support the diagnosis. For tyrosine hydroxylase deficiency, an autosomal recessive genetic cause of DRD, molecular genetic testing has confirmed the presence of mutations in all affected people to date. Specific laboratory tests performed on CSF help support the diagnosis but are not diagnostic on their own. For sepiapterin reductase deficiency, a very rare autosomal recessive form of DRD, there are distinctive findings in CSF and reduced or absent activity of sepiapterin reductase in fibroblasts. Molecular genetic testing can identify mutations in the responsible gene and confirm the diagnosis of this form of DRD. The major conditions that may have a similar presentation to DRD and are part of the differential diagnosis include early-onset parkinsonism, early-onset primary dystonia, and cerebral palsy or spastic paraplegia. People with specific questions about being evaluated for any form of dystonia should speak with a neurologist or other health care provider.
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What is (are) Juvenile amyotrophic lateral sclerosis ?
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Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement. Signs and symptoms of juvenile ALS tend to present by age 25 years or younger. Unlike other types of ALS, juvenile ALS is not rapidly progressive. People with juvenile ALS can have a normal life expectancy. Juvenile ALS is often genetic and may be inherited in an autosomal dominant or 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) Juvenile amyotrophic lateral sclerosis ? assistant Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement. Signs and symptoms of juvenile ALS tend to present by age 25 years or younger. Unlike other types of ALS, juvenile ALS is not rapidly progressive. People with juvenile ALS can have a normal life expectancy. Juvenile ALS is often genetic and may be inherited in an autosomal dominant or autosomal recessive fashion.
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What are the symptoms of Juvenile amyotrophic lateral sclerosis ?
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What are the signs and symptoms of juvenile amyotrophic lateral sclerosis? Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. Juvenile ALS usually does not affect thinking or mental processing, nor does it tend to cause sensory dysfunction (e.g., numbness or tingling). As the condition progresses muscle involvement can be severe. Some people with juvenile ALS, eventually experience muscle weakness in the face and throat. Some have experienced emotional liability (involuntary crying or laughing) and/or respiratory weakness.[133]
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Juvenile amyotrophic lateral sclerosis ? assistant What are the signs and symptoms of juvenile amyotrophic lateral sclerosis? Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. Juvenile ALS usually does not affect thinking or mental processing, nor does it tend to cause sensory dysfunction (e.g., numbness or tingling). As the condition progresses muscle involvement can be severe. Some people with juvenile ALS, eventually experience muscle weakness in the face and throat. Some have experienced emotional liability (involuntary crying or laughing) and/or respiratory weakness.[133]
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What causes Juvenile amyotrophic lateral sclerosis ?
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What causes juvenile amyotrophic lateral sclerosis? Juvenile amyotrophic lateral sclerosis (ALS) is often genetic and may be caused by mutations in the ALS2 or SETX genes. In some cases the underlying gene abnormality cannot be determined. Juvenile ALS may be inherited in an autosomal dominant (as in ALS type 4) or autosomal recessive (as in ALS type 2) fashion.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Juvenile amyotrophic lateral sclerosis ? assistant What causes juvenile amyotrophic lateral sclerosis? Juvenile amyotrophic lateral sclerosis (ALS) is often genetic and may be caused by mutations in the ALS2 or SETX genes. In some cases the underlying gene abnormality cannot be determined. Juvenile ALS may be inherited in an autosomal dominant (as in ALS type 4) or autosomal recessive (as in ALS type 2) fashion.
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What are the treatments for Juvenile amyotrophic lateral sclerosis ?
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How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful. Multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; and social workers can help to develop personalized treatment plans. While the Food and Drug Administration (FDA) has approved riluzole (Rilutek) for treatment of ALS, we found limited information regarding its use for juvenile ALS. We recommend that you discuss any questions regarding the risk/benefits of this drug with your healthcare provider.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Juvenile amyotrophic lateral sclerosis ? assistant How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful. Multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; and social workers can help to develop personalized treatment plans. While the Food and Drug Administration (FDA) has approved riluzole (Rilutek) for treatment of ALS, we found limited information regarding its use for juvenile ALS. We recommend that you discuss any questions regarding the risk/benefits of this drug with your healthcare provider.
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What are the symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis ?
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What are the signs and symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amaurosis congenita cone-rod type with congenital hypertrichosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Coarse hair 90% Hypermetropia 90% Nystagmus 90% Optic atrophy 90% Photophobia 90% Synophrys 90% Thick eyebrow 90% Visual impairment 90% Autosomal recessive inheritance - Congenital visual impairment - Hirsutism - Retinal 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 Amaurosis congenita cone-rod type with congenital hypertrichosis ? assistant What are the signs and symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amaurosis congenita cone-rod type with congenital hypertrichosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Coarse hair 90% Hypermetropia 90% Nystagmus 90% Optic atrophy 90% Photophobia 90% Synophrys 90% Thick eyebrow 90% Visual impairment 90% Autosomal recessive inheritance - Congenital visual impairment - Hirsutism - Retinal 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 are the symptoms of Spinocerebellar degeneration and corneal dystrophy ?
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What are the signs and symptoms of Spinocerebellar degeneration and corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar degeneration and corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% EEG abnormality 90% Hemiplegia/hemiparesis 90% Incoordination 90% Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of movement 50% Hyperlordosis 50% Hypertonia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Scoliosis 50% Triangular face 50% Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Corneal dystrophy - Intellectual disability - Severe visual impairment - Spinocerebellar tract degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 degeneration and corneal dystrophy ? assistant What are the signs and symptoms of Spinocerebellar degeneration and corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar degeneration and corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% EEG abnormality 90% Hemiplegia/hemiparesis 90% Incoordination 90% Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of movement 50% Hyperlordosis 50% Hypertonia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Scoliosis 50% Triangular face 50% Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Corneal dystrophy - Intellectual disability - Severe visual impairment - Spinocerebellar tract degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Usher syndrome, type 1B ?
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Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Usher syndrome, type 1B ? assistant Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.
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What are the symptoms of Usher syndrome, type 1B ?
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What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent vestibular function - Autosomal recessive inheritance - Heterogeneous - Motor delay - Rod-cone dystrophy - Sensorineural hearing impairment - Undetectable electroretinogram - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Usher syndrome, type 1B ? assistant What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent vestibular function - Autosomal recessive inheritance - Heterogeneous - Motor delay - Rod-cone dystrophy - Sensorineural hearing impairment - Undetectable electroretinogram - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Is Usher syndrome, type 1B inherited ?
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How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Usher syndrome, type 1B inherited ? assistant How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
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What is (are) 15q11.2 microdeletion ?
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15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) 15q11.2 microdeletion ? assistant 15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.
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What are the symptoms of 15q11.2 microdeletion ?
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What are the signs and symptoms of 15q11.2 microdeletion? The signs and symptoms in people with a 15q11.2 microdeletion can vary widely. Some people with the microdeletion don't have any apparent features, while others are more severely affected. When not all people with a genetic abnormality are affected, the condition is said to have reduced penetrance. When signs and symptoms vary among affected people, the condition is said to have variable expressivity. The most commonly reported features in people with a 15q11.2 microdeletion include neurological dysfunction, developmental delay, language delay, motor delay, ADD/ADHD, and autism spectrum disorder. Other signs and symptoms that have been reported include seizures; abnormally shaped ears; abnormalities of the palate (roof of the mouth); memory problems; behavioral problems; and mental illness. While some babies with a 15q11.2 microdeletion are born with a minor or serious birth defect, many babies are born completely healthy. You may read additional information about this microdeletion in Unique's guide entitled '15q11.2 microdeletions.' This guide contains information from both the published medical literature and from a survey of members with a 15q11.2 microdeletion. The Human Phenotype Ontology provides the following list of signs and symptoms for 15q11.2 microdeletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cardiovascular system morphology - Ataxia - Autistic behavior - Autosomal dominant inheritance - Broad forehead - Cleft palate - Clumsiness - Delayed speech and language development - Feeding difficulties - Happy demeanor - Hypertelorism - Incomplete penetrance - Intellectual disability - Muscular hypotonia - Obsessive-compulsive behavior - Plagiocephaly - Seizures - 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 15q11.2 microdeletion ? assistant What are the signs and symptoms of 15q11.2 microdeletion? The signs and symptoms in people with a 15q11.2 microdeletion can vary widely. Some people with the microdeletion don't have any apparent features, while others are more severely affected. When not all people with a genetic abnormality are affected, the condition is said to have reduced penetrance. When signs and symptoms vary among affected people, the condition is said to have variable expressivity. The most commonly reported features in people with a 15q11.2 microdeletion include neurological dysfunction, developmental delay, language delay, motor delay, ADD/ADHD, and autism spectrum disorder. Other signs and symptoms that have been reported include seizures; abnormally shaped ears; abnormalities of the palate (roof of the mouth); memory problems; behavioral problems; and mental illness. While some babies with a 15q11.2 microdeletion are born with a minor or serious birth defect, many babies are born completely healthy. You may read additional information about this microdeletion in Unique's guide entitled '15q11.2 microdeletions.' This guide contains information from both the published medical literature and from a survey of members with a 15q11.2 microdeletion. The Human Phenotype Ontology provides the following list of signs and symptoms for 15q11.2 microdeletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cardiovascular system morphology - Ataxia - Autistic behavior - Autosomal dominant inheritance - Broad forehead - Cleft palate - Clumsiness - Delayed speech and language development - Feeding difficulties - Happy demeanor - Hypertelorism - Incomplete penetrance - Intellectual disability - Muscular hypotonia - Obsessive-compulsive behavior - Plagiocephaly - Seizures - 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 15q11.2 microdeletion ?
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What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion. The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes 15q11.2 microdeletion ? assistant What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion. The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected.
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What is (are) Noonan syndrome 1 ?
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Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Noonan syndrome 1 ? assistant Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
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What are the symptoms of Noonan syndrome 1 ?
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What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 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) Intellectual disability 25% Hypogonadism 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Coarctation of aorta - Cryptorchidism - Cubitus valgus - Cystic hygroma - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertelorism - Hypertrophic cardiomyopathy - Kyphoscoliosis - Low posterior hairline - Low-set, posteriorly rotated ears - Lymphedema - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Ptosis - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Sensorineural hearing impairment - Shield chest - Short neck - Short stature - Superior pectus carinatum - Synovitis - Triangular face - Ventricular septal defect - Webbed neck - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Noonan syndrome 1 ? assistant What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 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) Intellectual disability 25% Hypogonadism 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Coarctation of aorta - Cryptorchidism - Cubitus valgus - Cystic hygroma - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertelorism - Hypertrophic cardiomyopathy - Kyphoscoliosis - Low posterior hairline - Low-set, posteriorly rotated ears - Lymphedema - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Ptosis - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Sensorineural hearing impairment - Shield chest - Short neck - Short stature - Superior pectus carinatum - Synovitis - Triangular face - Ventricular septal defect - Webbed neck - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Noonan syndrome 1 ?
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How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Noonan syndrome 1 ? assistant How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
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What are the symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract ?
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What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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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 nonsyndromic congenital nuclear cataract ? assistant What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What are the symptoms of Aniridia absent patella ?
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What are the signs and symptoms of Aniridia absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 iris 90% Patellar aplasia 90% Cataract 50% Cryptorchidism 50% Glaucoma 50% Hernia of the abdominal wall 50% Muscular hypotonia 50% Ptosis 50% Aniridia - Aplasia/Hypoplasia of the patella - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Aniridia absent patella ? assistant What are the signs and symptoms of Aniridia absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 iris 90% Patellar aplasia 90% Cataract 50% Cryptorchidism 50% Glaucoma 50% Hernia of the abdominal wall 50% Muscular hypotonia 50% Ptosis 50% Aniridia - Aplasia/Hypoplasia of the patella - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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What is (are) Ehlers-Danlos syndrome ?
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Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
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Answer the question truthfully, you are a medical professional.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Ehlers-Danlos syndrome ? assistant Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
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What are the symptoms of Ehlers-Danlos syndrome ?
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What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints which may lead to recurrent joint dislocations and subluxations (partial dislocation). Affected people generally experience skin involvement (soft, smooth and velvety skin with easy bruising) and chronic pain of the muscles and/or bones, as well. Classic type - associated with extremely elastic (stretchy), smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility. Molluscoid pseudotumors (calcified hematomas over pressure points such as the elbow) and spheroids (fat-containing cysts on forearms and shins) are frequently diagnosed in affected people. Hypotonia and delayed motor development may occur, as well. Vascular type - characterized by thin, translucent skin that is extremely fragile and bruises easily. Arteries and certain organs such as the intestines and uterus are also fragile and prone to rupture. Affected people typically have short stature; thin scalp hair; and characteristic facial features including large eyes, a thin nose and lobeless ears. Joint hypermobility is present, but generally confined to the small joints (fingers, toes). Other common features include club foot; tendon and/or muscle rupture; acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; pneumothorax (collapse of a lung); gingival (gums) recession; and a decreased amount of subcutaneous (under the skin) fat. Kyphoscoliosis type - associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. Affected people may also have easy bruising; fragile arteries that are prone to rupture; unusually small cornia; and osteopenia (low bone density). Other common features include a "marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). Arthrochalasia type - characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising; hypotonia; kyphoscoliosis (kyphosis and scoliosis); and mild osteopenia. Dermatosparaxis type - associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias. For more information on each subtype, please click on the links above. You can also find more detailed information on Medscape Reference's Web site or the Ehlers-Danlos National Foundation's Web site. Although other forms of the condition exist, they are extremely rare and are not well-characterized.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ehlers-Danlos syndrome ? assistant What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints which may lead to recurrent joint dislocations and subluxations (partial dislocation). Affected people generally experience skin involvement (soft, smooth and velvety skin with easy bruising) and chronic pain of the muscles and/or bones, as well. Classic type - associated with extremely elastic (stretchy), smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility. Molluscoid pseudotumors (calcified hematomas over pressure points such as the elbow) and spheroids (fat-containing cysts on forearms and shins) are frequently diagnosed in affected people. Hypotonia and delayed motor development may occur, as well. Vascular type - characterized by thin, translucent skin that is extremely fragile and bruises easily. Arteries and certain organs such as the intestines and uterus are also fragile and prone to rupture. Affected people typically have short stature; thin scalp hair; and characteristic facial features including large eyes, a thin nose and lobeless ears. Joint hypermobility is present, but generally confined to the small joints (fingers, toes). Other common features include club foot; tendon and/or muscle rupture; acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; pneumothorax (collapse of a lung); gingival (gums) recession; and a decreased amount of subcutaneous (under the skin) fat. Kyphoscoliosis type - associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. Affected people may also have easy bruising; fragile arteries that are prone to rupture; unusually small cornia; and osteopenia (low bone density). Other common features include a "marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). Arthrochalasia type - characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising; hypotonia; kyphoscoliosis (kyphosis and scoliosis); and mild osteopenia. Dermatosparaxis type - associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias. For more information on each subtype, please click on the links above. You can also find more detailed information on Medscape Reference's Web site or the Ehlers-Danlos National Foundation's Web site. Although other forms of the condition exist, they are extremely rare and are not well-characterized.
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