sarnsrun/medquad huggingface dataset:
Topic: Hydatidiform mole
Question: What are the symptoms of Hydatidiform mole ?
Answer: What are the signs and symptoms of Hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydatidiform mole. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 menstrual cycle 90% Anemia 90% Nausea and vomiting 90% Spontaneous abortion 90% Toxemia of pregnancy 90% Hyperthyroidism 7.5% Abnormality of the genitourinary system - 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.
Source: GARD
Topic: Achondroplasia
Question: What is (are) Achondroplasia ?
Answer: Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. Achondroplasia is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant fashion.
Source: GARD
Topic: Achondroplasia
Question: What are the symptoms of Achondroplasia ?
Answer: What are the signs and symptoms of Achondroplasia? In babies, apnea occurs when breathing stops for more than 15 seconds. Snoring is often a sign of apnea, however most children with achondroplasia snore. Obstructive apnea or disordered breathing in sleep may be suspected if the child has increased retraction, glottal stops, choking, intermittent breathing, deep compensatory sighs, secondary bed wetting, recurrent night-time awakening or vomiting. If these signs are present then additional lung and sleep studies are recommended. The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 metaphyses 90% Abnormality of the ribs 90% Anteverted nares 90% Brachydactyly syndrome 90% Depressed nasal bridge 90% Frontal bossing 90% Genu varum 90% Hyperlordosis 90% Limb undergrowth 90% Macrocephaly 90% Skeletal dysplasia 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Apnea 50% Conductive hearing impairment 50% Hyperhidrosis 50% Intrauterine growth retardation 50% Joint hypermobility 50% Kyphosis 50% Long thorax 50% Malar flattening 50% Muscular hypotonia 50% Narrow chest 50% Obesity 50% Ventriculomegaly 50% Acanthosis nigricans 7.5% Elbow dislocation 7.5% Hydrocephalus 7.5% Neurological speech impairment 7.5% Spinal canal stenosis 7.5% Sudden cardiac death 7.5% Autosomal dominant inheritance - Brain stem compression - Flared metaphysis - Generalized joint laxity - Hypoplasia of midface - Infantile muscular hypotonia - Limited elbow extension - Limited hip extension - Lumbar hyperlordosis - Lumbar kyphosis in infancy - Megalencephaly - Motor delay - Neonatal short-limb short stature - Recurrent otitis media - Rhizomelia - Short femoral neck - Small foramen magnum - Spinal stenosis with reduced interpedicular distance - Trident hand - Upper airway obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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: Achondroplasia
Question: What causes Achondroplasia ?
Answer: What causes achondroplasia? Achondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen in this condition.
Source: GARD
Topic: Achondroplasia
Question: Is Achondroplasia inherited ?
Answer: Is achondroplasia inherited? Most cases of achondroplasia are not inherited. When it is inherited, it follows an autosomal dominant pattern of inheritance. About 80% of individuals who have achondroplasia have parents with normal stature and are born with the condition as a result of a new (de novo) gene alteration (mutation). Each individual with achondroplasia has a 50% chance, with each pregnancy, to pass on the mutated gene.
Source: GARD
Topic: Achondroplasia
Question: What are the treatments for Achondroplasia ?
Answer: How might children with achondroplasia be treated? Recommendations for management of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics in the article, Health Supervision for Children with Achondroplasia. We recommend that you review this article with your childs health care provider(s). These recommendations include:  Monitoring of height, weight, and head circumference using growth curves standardized for achondroplasia  Measures to avoid obesity starting in early childhood.  Careful neurologic examinations, with referral to a pediatric neurologist as necessary  MRI or CT of the foramen magnum region for evaluation of severe hypotonia or signs of spinal cord compression  Obtaining history for possible sleep apnea, with sleep studies as necessary  Evaluation for low thoracic or high lumbar gibbus if truncal weakness is present  Referral to a pediatric orthopedist if bowing of the legs interferes with walking  Management of frequent middle-ear infections  Speech evaluation by age two years  Careful monitoring of social adjustment The GeneReview article on achondroplasia also provides information on medical management.  http://www.ncbi.nlm.nih.gov/books/NBK1152/#achondroplasia.Management
Source: GARD
Topic: Book syndrome
Question: What is (are) Book syndrome ?
Answer: Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). Book syndrome is inherited in an autosomal dominant manner.
Source: GARD
Topic: Book syndrome
Question: What are the symptoms of Book syndrome ?
Answer: What are the signs and symptoms of Book syndrome? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. The signs and symptoms reported in the Swedish family included premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and early whitening of the hair. Early whitening of the hair was the most constant symptom, being found in every affected family member. The age of onset of this symptom ranged from age 6 to age 23. In some cases, there was whitening of hair on other parts of the body such as the armipits, genital hair, and eyebrows. Two-thirds of the affected people had an abnormality of the sweat glands. In the isolated case, additional features that were reported include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). The Human Phenotype Ontology provides the following list of signs and symptoms for Book 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) Premature graying of hair 90% Short palm 90% Abnormality of the eyebrow 50% Abnormality of the fingernails 50% Abnormality of the palate 50% Single transverse palmar crease 50% Autosomal dominant inheritance - Hypodontia - Palmoplantar hyperhidrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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: Book syndrome
Question: Is Book syndrome inherited ?
Answer: How is Book syndrome inherited? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. In the Swedish family, the syndrome was inherited in an autosomal dominant manner. In autosomal dominant inheritance, having a mutation in only one copy 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) risk to inherit the mutated copy of the gene.
Source: GARD
Topic: Book syndrome
Question: How to diagnose Book syndrome ?
Answer: How is Book syndrome diagnosed? Due to the rarity of Book syndrome and scarcity of reports in the medical literature, we are unaware of specific information about diagnosing Book syndrome. In general, ectodermal dysplasias are diagnosed by the presence of specific symptoms affecting the hair, nails, sweat glands, and/or teeth. When a person has at least two types of abnormal ectodermal features (e.g., malformed teeth and extremely sparse hair), the person is typically identified as being affected by an ectodermal dysplasia. Specific genetics tests to diagnose ectodermal dysplasia are available for only a limited number of ectodermal dysplasias. Unfortunately, there currently is no genetic test for Book syndrome because the gene responsible for the condition has not yet been identified. People who are interested in learning more about a diagnosis of ectodermal dysplasia for themselves or family members should speak with their dermatologist and/or dentist. These specialists can help determine whether a person has signs and/or symptoms of ectodermal dysplasia.
Source: GARD
Topic: Anauxetic dysplasia
Question: What are the symptoms of Anauxetic dysplasia ?
Answer: What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Brachydactyly syndrome - Cervical cord compression - Cervical subluxation - Delayed ossification of carpal bones - Flared metaphysis - Hypertelorism - Hypodontia - Hypoplastic ilia - Intellectual disability - J-shaped sella turcica - Platyspondyly - Rhizomelia - Short finger - Short neck - Short toe - Small epiphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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: Small patella syndrome
Question: What are the symptoms of Small patella syndrome ?
Answer: What are the signs and symptoms of Small patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Small patella 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) Patellar aplasia 90% Abnormality of the hip bone 50% Autosomal dominant inheritance - Cleft palate - Flat capital femoral epiphysis - High palate - Hypoplasia of the lesser trochanter - Patellar dislocation - Patellar hypoplasia - Pes planus - Sandal gap - Wide capital femoral epiphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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: MECP2 duplication syndrome
Question: What is (are) MECP2 duplication syndrome ?
Answer: MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures; and/or spasticity. MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The condition is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: MECP2 duplication syndrome
Question: What causes MECP2 duplication syndrome ?
Answer: What causes MECP2 duplication syndrome? MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The size of the duplication can vary; however, this does not appear to affect the severity of the condition. People with larger duplications have signs and symptoms that are similar to people with smaller duplications. The MECP2 gene encodes a protein that is important for normal brain functioning. Although it plays many roles, one of its most important functions is to regulate other genes in the brain by switching them on and off. A duplication of the MECP2 gene leads to the production of excess protein, which is unable to properly regulate the expression of other genes. This results in irregular brain activity, leading to the signs and symptoms of MECP2 duplication syndrome.
Source: GARD
Topic: MECP2 duplication syndrome
Question: Is MECP2 duplication syndrome inherited ?
Answer: Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). In males (who have only one X chromosome), a duplication of the MECP2 gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a duplication of one of the two copies of the gene typically does not cause the disorder. Early in the development of females, one of the two X chromosomes is randomly and permanently inactivated in each cell (called X-inactivation). X-inactivation prevents female cells from having twice as many functional X chromosomes as males. Because X-inactivation is usually random, the X chromosome inherited from the mother is active in some cells, and the X chromosome inherited from the father is active in other cells. However, when a female has an X chromosome with a duplicated copy of the MECP2 gene, the abnormal chromosome is often preferentially inactivated in many or all cells. This is called "skewed X-inactivation." It prevents some women with an MECP2 duplication from developing features of the duplication since the extra genetic material is not active. In most cases, MECP2 duplication syndrome is inherited from a mother who has no signs or symptoms of the duplication. Rarely, the condition is not inherited and occurs due to a random event during the formation of the egg or sperm, or in early fetal development. When this happens, it is called a de novo duplication (occurring as a new genetic change for the first time in the affected person).
Source: GARD
Topic: MECP2 duplication syndrome
Question: How to diagnose MECP2 duplication syndrome ?
Answer: How is MECP2 duplication syndrome diagnosed? A diagnosis of MECP2 duplication syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis.
Source: GARD
Topic: MECP2 duplication syndrome
Question: What are the treatments for MECP2 duplication syndrome ?
Answer: How might MECP2 duplication syndrome be treated? Because MECP2 duplication syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, infants with trouble swallowing and/or other feeding difficulties may require a feeding tube. Early developmental interventions may be recommended to help affected children reach their potential. This may include physical therapy, speech therapy and/or occupational therapy. Medications may be prescribed to treat seizures or spasticity. Recurrent infections are usually treated aggressively with appropriate antibiotics. Please speak with a healthcare provider if you have any questions about your personal medical management plan or that of a family member.
Source: GARD
Topic: Oral submucous fibrosis
Question: What are the symptoms of Oral submucous fibrosis ?
Answer: What are the signs and symptoms of Oral submucous fibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oral submucous fibrosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the oral cavity 90% Abnormality of the pharynx 90% Cheilitis 90% Trismus 90% Flexion contracture 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: Sertoli cell-only syndrome
Question: What is (are) Sertoli cell-only syndrome ?
Answer: Sertoli cell-only syndrome (SCO syndrome) is a condition of the testes that causes infertility in males due to having only Sertoli cells (cells that nurture immature sperm) lining the seminiferous tubules (tubes inside the testicles where sperm develop). Men typically learn they are affected between ages 20-40 when being evaluated for infertility and are found to have no sperm production (azoospermia). The diagnosis is made based on testicular biopsy findings. Other signs and symptoms are rare, but are secondary to the underlying condition causing SCO syndrome. Most cases are idiopathic (of unknown cause), but causes may include deletions in the azoospermia factor (AZF) region of the Y chromosome, or Y-chromosome microdeletions (referred to as Y chromosome infertility); Klinefelter syndrome; exposure to chemicals and toxins; history of radiation therapy; and history of severe trauma. There is not currently a known effective treatment for the condition. When no germ cells are visible in any seminiferous tubules it is considered SCO type I; if germ cells are present in a minority of tubules is it considered SCO type II.
Source: GARD