sarnsrun/medquad huggingface dataset:
Topic: Dystonia 7, torsion
Question: What are the symptoms of Dystonia 7, torsion ?
Answer: What are the signs and symptoms of Dystonia 7, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 7, torsion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Blepharospasm - Clumsiness - Dysphonia - Hand tremor - Oromandibular dystonia - Skeletal muscle hypertrophy - Torsion dystonia - Torticollis - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: FG syndrome
Question: What is (are) FG syndrome ?
Answer: FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and  BRWD3 (FGS7). FGS is inherited in an X-linked recessive pattern. Individualized early intervention and educational services are important so that each child can reach their fullest potential.
Source: GARD
Topic: FG syndrome
Question: What are the treatments for FG syndrome ?
Answer: How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. Early intervention and special education services should be initiated as soon as possible so that each child can reach his fullest potential. GeneReviews provides a detailed list of management strategies.
Source: GARD
Topic: Fetal retinoid syndrome
Question: What is (are) Fetal retinoid syndrome ?
Answer: Fetal retinoid syndrome is a characteristic pattern of physical and mental birth defects that results from maternal use of retinoids during pregnancy. The most well known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne. Birth defects associated with fetal retinoid syndrome include: hydrocephalus, microcephaly, intellectual disabilities, ear and eye abnormalities, cleft palate and other facial differences, and heart defects. Isotretinoin can cause these birth defects in the early weeks of pregnancy, even before a woman knows that she is pregnant.
Source: GARD
Topic: Malignant eccrine spiradenoma
Question: What is (are) Malignant eccrine spiradenoma ?
Answer: Malignant eccrine spiradenoma is a type of tumor that develops from a sweat gland in the skin.  It starts as a rapidly-growing bump on the head or abdomen, and may cause tenderness, redness, or an open wound.  The exact cause of malignant eccrine spiradenoma is unknown, though it is thought that sun exposure or problems with the immune system (immunosuppression) may contribute to the development of this tumor.  Because malignant eccrine spiradenoma is quite rare, there are no established treatment guidelines; however, in practice, surgery is often performed to remove the tumor and additional treatments may follow, depending on the severity and extent of the cancer.
Source: GARD
Topic: Malignant eccrine spiradenoma
Question: What are the treatments for Malignant eccrine spiradenoma ?
Answer: How might malignant eccrine spiradenoma be treated? Surgery to remove as much of the tumor as possible is usually the first step of treatment for malignant eccrine spiradenoma.  Both a traditional surgical technique known as wide local excision and the newer Mohs micrographic surgery are thought to be effective for treating this cancer.  Additional treatment may include radiation therapy to destroy any cancer cells that might remain after surgery.  Though chemotherapy has been used in cases of malignant eccrine spiradenoma, it is thought to be of limited help in treating this disease.
Source: GARD
Topic: Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
Question: What is (are) Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ?
Answer: HEM (hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. According to the reported cases of HEM in the medical literature, the condition's main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands and feet, a "moth-eaten" appearance of the skeleton, flat vertebral bodies and ectopic calcifications. HEM is an autosomal recessive condition caused by a mutation in the lamin B receptor (LBR) gene. No treatment or cure is currently known for HEM.
Source: GARD
Topic: Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
Question: What causes Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ?
Answer: What causes HEM? HEM is associated with mutations (changes) in the lamin B receptor (LBR) gene located on chromosome 1, specifically at 1q42.1.  Each person has two copies of the LBR gene - one inherited from mom and the other from dad. People who have two mutated copies of the LBR gene have HEM; thus, the condition is said to be inherited in an autosomal recessive pattern. The presence of two mutated copies of the LBR gene may affect the structure of the nucleus of the cell as well.
Source: GARD
Topic: Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
Question: How to diagnose Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ?
Answer: How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM.
Source: GARD
Topic: Palmer Pagon syndrome
Question: What are the symptoms of Palmer Pagon syndrome ?
Answer: What are the signs and symptoms of Palmer Pagon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmer Pagon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the thorax 90% Abnormality of the urinary system 90% Communicating hydrocephalus 90% Epicanthus 90% Hernia of the abdominal wall 90% Anomalous pulmonary venous return 50% Patent ductus arteriosus 50% Tetralogy of Fallot 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Spinocerebellar ataxia 31
Question: What are the symptoms of Spinocerebellar ataxia 31 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 31? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 31. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Late onset 50% Gaze-evoked horizontal nystagmus 33% Sensorineural hearing impairment 7.5% Ataxia - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Gait ataxia - Limb 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.
Source: GARD
Topic: Punctate palmoplantar keratoderma type 2
Question: What are the symptoms of Punctate palmoplantar keratoderma type 2 ?
Answer: What are the signs and symptoms of Punctate palmoplantar keratoderma type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Punctate palmoplantar keratoderma type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Palmoplantar keratoderma 90% Neoplasm of the skin 7.5% Autosomal dominant inheritance - Palmar telangiectasia - Plantar telangiectasia - Porokeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Alopecia epilepsy oligophrenia syndrome of Moynahan
Question: What are the symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan ?
Answer: What are the signs and symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia epilepsy oligophrenia syndrome of Moynahan. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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% Cognitive impairment 90% Abnormality of the genital system 50% Decreased body weight 50% Microcephaly 50% Seizures 50% Short stature 50% Hyperkeratosis 7.5% Sensorineural hearing impairment 7.5% Autosomal recessive inheritance - EEG abnormality - Intellectual disability - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Treacher Collins syndrome
Question: What is (are) Treacher Collins syndrome ?
Answer: Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Other features may include cleft palate, eye abnormalities, and hearing loss. TCS may be caused by mutations in the TCOF1, POLR1C, or POLR1D genes. When the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner. However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent. When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown.
Source: GARD
Topic: Treacher Collins syndrome
Question: What causes Treacher Collins syndrome ?
Answer: What causes Treacher Collins syndrome? Treacher Collins syndrome (TCS) is caused by changes (mutations) in any of several genes: TCOF1 (in over 80% of cases), POLR1C, or POLR1D. In a few cases, the genetic cause of the condition is unknown. These genes appear to play important roles in the early development of bones and other tissues of the face. They are involved in making proteins that help make ribosomal RNA (rRNA). rRNA is a chemical needed to make new proteins that are necessary for normal function and survival of cells. Mutations in these genes can reduce the production of rRNA, which may cause cells involved in the development of facial bones and tissues to die early. This premature cell death may lead to the signs and symptoms of TCS. It is still unclear why the effects of these mutations are generally limited to facial development.
Source: GARD
Topic: Treacher Collins syndrome
Question: What are the treatments for Treacher Collins syndrome ?
Answer: How might Treacher Collins syndrome be treated? There is currently no cure for Treacher Collins syndrome (TCS). Treatment is tailored to the specific needs of each affected person. Ideally, treatment is managed by a multidisciplinary team of craniofacial specialists. Newborns may need special positioning or tracheostomy to manage the airway. Hearing loss may be treated with bone conduction amplification, speech therapy, and/or educational intervention. In many cases, craniofacial reconstruction is needed. Surgery may be performed to repair cleft palate, to reconstruct the jaw, or to repair other bones in the skull. The specific surgical procedures used and the age when surgery is performed depends on the severity of the abnormalities, overall health and personal preference. There are some possible treatments that are being investigated. Researchers are looking for ways to inhibit a protein called p53, which helps the body to kill off unwanted cells. In people with TCS, p53 is abnormally activated, leading to the loss of specific cells and ultimately causing features of TCS. It has been proposed that inhibiting the production of p53 (or blocking its activation) may help to treat affected people. However, more research is needed to determine if this type of treatment is effective and safe. Researchers are also studying the use of stems cells found in fat tissue to be used alongside surgery in people with TCS and other craniofacial disorders. Early studies have shown that surgical outcomes may be improved using these stem cells to help stimulate the regrowth of affected areas. However, this therapy is still experimental and controversial.
Source: GARD
Topic: Chondrosarcoma
Question: What are the symptoms of Chondrosarcoma ?
Answer: What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Chondrosarcoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Metachromatic leukodystrophy due to saposin B deficiency
Question: What are the symptoms of Metachromatic leukodystrophy due to saposin B deficiency ?
Answer: What are the signs and symptoms of Metachromatic leukodystrophy due to saposin B deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy due to saposin B deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the periventricular white matter - Autosomal recessive inheritance - Babinski sign - CNS demyelination - Decreased nerve conduction velocity - Developmental regression - Dysarthria - Dysphagia - Gait ataxia - Hyperreflexia - Hyporeflexia - Loss of speech - Mental deterioration - Muscular hypotonia - Peripheral demyelination - Polyneuropathy - Seizures - Spastic tetraparesis - Urinary incontinence - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Femoral facial syndrome
Question: What is (are) Femoral facial syndrome ?
Answer: Femoral-facial syndrome is characterized by underdevelopment of the thigh bones and certain facial features, which may include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small or underdeveloped lower jaw (micrognathia), and cleft palate. Symptoms may affect one or both sides of the face and limbs. Cleft palate has been reported only in females. Other signs and symptoms occur variably. Intellectual development has been reported as normal. In most cases the cause of the condition is unknown (sporadic). Some cases have been reported in association with diabetes during pregnancy (maternal diabetes). There have been rare reports (three cases) describing a family with more than one affected member.
Source: GARD