Druvith/medqa1 huggingface dataset:
Question:  What is (are) Orofaciodigital syndrome 1 ?
Answer: Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.
Question:  How to diagnose Orofaciodigital syndrome 1 ?
Answer: Is genetic testing available for orofaciodigital syndrome 1 (OFD1)? Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1  is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected.  A change (mutation) in the OFD1 gene is detected in up to 85% of individuals who have OFD1.  You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1.
Question:  What is (are) Potocki-Lupski syndrome ?
Answer: Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. They may also present with delayed development of motor and verbal milestones. In addition, many individuals display some behaviors commonly associated with autism spectrum disorders. While most cases of Potocki-Lupski syndrome occur sporadically, in rare cases, it may be inherited. Treatment involves physical, occupational, and speech therapy.
Question:  What are the symptoms of Potocki-Lupski syndrome ?
Answer: What are the signs and symptoms of Potocki-Lupski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Lupski 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% Abnormality of the pharynx 90% Apnea 90% Attention deficit hyperactivity disorder 90% Autism 90% Cognitive impairment 90% Muscular hypotonia 90% Neurological speech impairment 90% Broad forehead 50% EEG abnormality 50% Hypermetropia 50% Scoliosis 50% Triangular face 50% Abnormality of dental morphology 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Dental malocclusion 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Short stature 7.5% Wide mouth 7.5% Hypothyroidism 5% Abnormal renal morphology - Abnormality of the cardiovascular system - Autosomal dominant inheritance - Delayed myelination - Dental crowding - Dysphasia - Echolalia - Expressive language delay - Failure to thrive - Feeding difficulties in infancy - Gastroesophageal reflux - Generalized hypotonia - High palate - Hyperactivity - Hypocholesterolemia - Hypoplasia of the corpus callosum - Intellectual disability, mild - Language impairment - Mandibular prognathia - Oral-pharyngeal dysphagia - Patent foramen ovale - Phenotypic variability - Poor eye contact - Prominent nasal tip - Receptive language delay - Seizures - Sleep apnea - Small for gestational age - Smooth philtrum - Sporadic - Stereotypic behavior - Trigonocephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What is (are) Hereditary angioedema ?
Answer: Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels. This condition is inherited in an autosomal dominant pattern.
Question:  What are the symptoms of Hereditary angioedema ?
Answer: What are the signs and symptoms of Hereditary angioedema? Hereditary angioedema is characterized by recurrent episodes of severe swelling (angioedema). The most commonly involved areas of the body are the limbs, face, intestinal tract, and airway. While minor trauma or stress may trigger an attack, swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack. Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. Untreated individuals may have an attack every 1 to 2 weeks. Most episodes last 3 to 4 days. The frequency and duration of attacks vary greatly among individuals with hereditary angioedema, even among those in the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angioedema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Edema 90% Urticaria 90% Abdominal pain 7.5% Ascites 7.5% Immunologic hypersensitivity 7.5% Intestinal obstruction 7.5% Abnormality of the larynx - Angioedema - Autoimmunity - Autosomal dominant inheritance - Diarrhea - Erythema - Intestinal edema - Laryngeal edema - Peripheral axonal neuropathy - Pharyngeal edema - 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.
Question:  What are the treatments for Hereditary angioedema ?
Answer: How might hereditary angioedema be treated? Medical treatment of hereditary angioedema (HAE) consists of preventing attacks and managing acute attacks once they occur. During attacks, patients may require respiratory support. They also may require large amounts of intravenous fluids to maintain hemodynamic stability. Until recently, no effective agent for acute attacks existed in the United States. Now, however, several agents have been approved, and others are in the midst of the U.S. Food and Drug Administration (FDA) approval process. In October 2008, the US FDA approved the use of C1-INH (Cinryze) for prophylaxis to prevent attacks. In October 2009, the FDA approved C1-INH (Berinert) for the treatment of acute abdominal and facial angioedema attacks in adolescents and adults with HAE.In December 2009, ecallantide (Kalbitor), a kallikrein inhibitor, was approved for the treatment of acute attacks.  In August 2011, the FDA approved Firazyr (icatibant) Injection for the treatment of acute attacks in people ages 18 years and older.  Firazyr can be self-administered through an injection in the abdominal area so patients can treat themselves when they realize they are having an  HAE attack. An article from the eMedicine Journal provides more detailed information on these medications and other methods of treating HAE at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/135604-treatment  The US Hereditary Angioedema Association also provides additional information about treatment of HAE.   http://www.haea.org/treating-hae/treatments/ Orphanet, a database dedicated to information on rare diseases and orphan drugs, provides guidelines regarding emergency management of hereditary angioedema at the following link. http://www.orpha.net/consor/cgi-bin/Disease_Emergency.php?lng=EN&stapage=FICHE_URGENCE_A1
Question:  What are the symptoms of Brooks Wisniewski Brown syndrome ?
Answer: What are the signs and symptoms of Brooks Wisniewski Brown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooks Wisniewski Brown 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) Developmental regression 5% Agenesis of corpus callosum - Blepharophimosis - Bulbous nose - Cerebral atrophy - Cupped ear - Decreased muscle mass - Deeply set eye - Delayed speech and language development - Depressed nasal bridge - EEG abnormality - Epicanthus inversus - Esotropia - Flexion contracture - Hyperactivity - Hyperreflexia - Increased serum lactate - Intellectual disability, progressive - Intellectual disability, severe - Low posterior hairline - Low-set ears - Microcephaly - Myopia - Narrow mouth - Nystagmus - Optic atrophy - Pectus excavatum - Poor coordination - Posteriorly rotated ears - Protruding ear - Seizures - Severe postnatal growth retardation - Short palpebral fissure - Short stature - Small for gestational age - Spastic diplegia - Tapered finger - Triangular face - 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.
Question:  What is (are) Endometrial stromal sarcoma ?
Answer: Endometrial stromal sarcoma is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the uterus. Endometrial stromal sarcoma, specifically, develops in the supporting connective tissue (stroma) of the uterus. Signs and symptoms of the condition include abnormal uterine bleeding (i.e. bleeding that is not part of menstrual periods or bleeding after menopause); abdominal pain and/or distension; and frequent urination. The exact underlying cause of endometrial stromal sarcoma is currently unknown. Most cases occur sporadically in people with no family history of the condition. Treatment varies based on the severity of the condition but may include surgery, radiation therapy, chemotherapy, and/or hormone therapy.
Question:  What is (are) Achondrogenesis ?
Answer: Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.
Question:  What are the symptoms of Achondrogenesis ?
Answer: What are the signs and symptoms of Achondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Brachydactyly syndrome 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short stature 90% Short thorax 90% Short toe 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Abnormality of the ribs 50% Polyhydramnios 50% Recurrent fractures 50% Talipes 50% Umbilical hernia 50% Cystic hygroma 7.5% Postaxial hand polydactyly 7.5% Abdominal distention - Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Abnormality of the foot - Absent or minimally ossified vertebral bodies - Absent vertebral body mineralization - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Breech presentation - Broad clavicles - Broad long bones - Cleft palate - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-limb short stature - Disproportionate short-trunk short stature - Edema - Flat face - Horizontal ribs - Hypoplasia of the radius - Hypoplastic ilia - Hypoplastic iliac wing - Hypoplastic ischia - Hypoplastic scapulae - Inguinal hernia - Neonatal short-limb short stature - Protuberant abdomen - Respiratory insufficiency - Short clavicles - Short long bone - Short ribs - Short tubular bones (hand) - Stillbirth - Unossified vertebral bodies - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What causes Achondrogenesis ?
Answer: What causes achondrogenesis? Research has shown that changes (mutations) in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A remains unknown.  The SLC26A2 gene provides instructions for making a protein that is important for the normal development of cartilage and for the conversion of cartilage to bone. The COL2A1 gene provides instructions for making a protein that forms a type of collagen found mostly in cartilage and in the clear gel that fills the eyeball (vitreous).  Mutations in these genes result in the production of proteins that are unable to properly perform their jobs within the body.
Question:  Is Achondrogenesis inherited ?
Answer: How is achondrogenesis inherited? Achondrogenesis type 1A and type 1B are believed to be inherited in an autosomal recessive pattern.  Autosomal recessive inheritance means both copies of the gene in each cell have mutations.  Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Achondrogenesis type 2 is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is almost always caused by new (de novo) mutations and typically occurs in people with no history of the disorder in their family.
Question:  How to diagnose Achondrogenesis ?
Answer: Is genetic testing is available for achondrogenesis? Genetic testing can help distinguish between the different types of achondrogenesis. GeneTests lists the names of laboratories that are performing genetic testing for achondrogenesis type 1B and type 2. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. In the Services tab, we provide a list of online resources that can assist you in locating a genetics professional near you.
Question:  What is (are) Congenital varicella syndrome ?
Answer: Congenital varicella syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth  due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation). Affected newborns may have a low birth weight and characteristic abnormalities of the skin, brain, eyes, the arms, legs, hands, and/or feet, and/or, in rare cases, other areas of the body. The range and severity of associated symptoms and physical findings may vary greatly from case to case depending upon when maternal varicella zoster infection occurred during fetal development.
Question:  What are the symptoms of Congenital varicella syndrome ?
Answer: What are the signs and symptoms of Congenital varicella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital varicella 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) Atypical scarring of skin 90% Intrauterine growth retardation 90% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cerebral cortical atrophy 50% Cognitive impairment 50% Microcephaly 50% Micromelia 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.
Question:  What is (are) Creutzfeldt-Jakob disease ?
Answer: Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. This condition often leads to death within a few weeks or months after symptoms begin. About 90 percent of patients do not survive for more than one year. In the United States, about 300 people are diagnosed with this condition each year. It occurs in approximately one in every one million people worldwide. CJD can be very difficult to diagnose because it is similar to other forms of dementia. The only way to confirm the diagnosis is to test a small sample of brain tissue, which can be done by brain biopsy or autopsy. CJD is caused by the build up of abnormal prion proteins in the brain. For most patients, the reason for the abnormal prions is unknown (sporadic CJD). About 5 to 10 percent of cases are due to an inherited genetic mutation associated with CJD (familial CJD). This condition can also be acquired through contact with infected brain tissue (iatrogenic CJD) or consuming infected beef (variant CJD). There is no specific treatment for CJD, so the goal is to make a person as comfortable as possible.