Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Pillay syndrome ?
Answer: What are the signs and symptoms of Pillay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pillay 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 bone mineral density 90% Abnormality of the humerus 90% Aplasia/Hypoplasia of the radius 90% Camptodactyly of finger 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Opacification of the corneal stroma 90% Radioulnar synostosis 90% Symphalangism affecting the phalanges of the hand 90% Synostosis of carpal bones 90% Visual impairment 90% Glaucoma 7.5% Megalocornea 7.5% Abnormality of the thorax - Autosomal dominant inheritance - Blindness - Coxa valga - Decreased mobility 3rd-5th fingers - Fibular hypoplasia - Lateral humeral condyle aplasia - Mesomelia - Radial bowing - Radioulnar dislocation - Temporomandibular joint ankylosis - Ulnar deviated club hands - 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) Familial hemiplegic migraine type 3 ?
Answer: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
Question:  What are the symptoms of Familial hemiplegic migraine type 3 ?
Answer: What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Blindness - Hemiparesis - Hemiplegia - Migraine with aura - Photophobia - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What is (are) Linear scleroderma ?
Answer: 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.
Question:  What is (are) Osteopathia striata cranial sclerosis ?
Answer: Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the condition are generally present at birth and may include skeletal abnormalities (particularly at the ends of long bones), sclerosis (hardening) of the craniofacial bones, macrocephaly (unusually large head size), and characteristic facial features. Some affected people may also have developmental delay, hearing loss, heart defects and/or ophthalmoplegia (paralysis of the muscles surrounding the eyes). Osteopathia striata cranial sclerosis is caused by changes (mutations) in the WTX gene and is inherited in an X-linked dominant manner. Treatment is based on the signs and symptoms present in each person.
Question:  What are the symptoms of Pelvic dysplasia arthrogryposis of lower limbs ?
Answer: What are the signs and symptoms of Pelvic dysplasia arthrogryposis of lower limbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelvic dysplasia arthrogryposis of lower limbs. 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) Depressed nasal bridge 90% Gait disturbance 90% Limitation of joint mobility 90% Skeletal muscle atrophy 90% Slender long bone 90% Abnormality of the hip bone 50% Blue sclerae 50% Sacrococcygeal pilonidal abnormality 50% Spina bifida occulta 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) Glycogen storage disease type 4 ?
Answer: Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual.
Question:  What causes Glycogen storage disease type 4 ?
Answer: What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. Glycogen is formed by assembling many molecules of glucose. The glycogen branching enzyme is involved in the formation of "branches" of glucose chains, which help to make glycogen more compact for storage and allows it to break down more easily when it is needed for energy. The GBE1 gene mutations that cause GSD 4 lead to a decrease in the amount or functionality of the glycogen branching enzyme. Glycogen is then not formed properly, and substances called polyglucosan bodies build up in cells throughout the body, causing the signs and symptoms of the condition.
Question:  Is Glycogen storage disease type 4 inherited ?
Answer: How is glycogen storage disease type 4 inherited? Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). Individuals with one abnormal copy of the GBE1 gene, such as the parents of an affected individual, are referred to as carriers. Carriers typically do not have signs or symptoms of an autosomal recessive condition. When two carriers of an autosomal recessive condition are having children, each of their children has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% chance to not be a carrier and not be affected.
Question:  What are the treatments for Glycogen storage disease type 4 ?
Answer: How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size, reduce symptoms, and allow for improved growth and development. Growing evidence indicates that a high-protein diet may improve muscle function in individuals with weakness or exercise intolerance and slow disease progression. Supportive care is typically needed for complications such as liver failure, heart failure, and neurologic dysfunction. Liver transplantation may be necessary for individuals with progressive liver disease. Individuals with cardiomyopathy may require the use of certain medications.
Question:  What is (are) Hydranencephaly ?
Answer: Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt.
Question:  What are the treatments for Hydranencephaly ?
Answer: How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the brain) may be treated with a shunt (a surgically implanted tube that helps to drain fluid from the brain).
Question:  What is (are) Paget disease of bone ?
Answer: Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life.
Question:  What are the symptoms of Paget disease of bone ?
Answer: What are the signs and symptoms of Paget disease of bone? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bilateral conductive hearing impairment 40% Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Bone pain - Brain stem compression - Cranial nerve paralysis - Elevated alkaline phosphatase - Fractures of the long bones - Heterogeneous - Hydroxyprolinuria - Increased susceptibility to fractures - Long-tract signs - Osteolysis - Paraparesis - Tetraparesis - Vertebral compression fractures - 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) Ainhum ?
Answer: Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition mainly affects people that live in tropical regions.
Question:  What are the symptoms of Ainhum ?
Answer: What are the signs and symptoms of Ainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Ainhum. 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) Amniotic constriction ring - 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.
Question:  What is (are) Familial juvenile hyperuricaemic nephropathy ?
Answer: Familial juvenile hyperuricaemic nephropathy (FJHN) is an inherited condition that affects the kidneys. The signs and symptoms vary, even among members of the same family. Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine. In FJHN, the kidneys are unable to remove uric acid from the blood effectively. Beginning in the early teens, FJHN causes gout and slowly progressive kidney disease, resulting in kidney failure. People with FJHN typically require either dialysis to remove wastes from the blood or a kidney transplant. FJHN is caused by mutations in the UMOD gene and is inherited in an autosomal dominant fashion.
Question:  What are the symptoms of Familial juvenile hyperuricaemic nephropathy ?
Answer: What are the signs and symptoms of Familial juvenile hyperuricaemic nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial juvenile hyperuricaemic nephropathy. 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 - Gout - Juvenile onset - Nephropathy - Progressive - Renal insufficiency - Tubular atrophy - 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) Fryns syndrome ?
Answer: Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many affected individuals have a defect in the diaphragm muscle such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. Most affected individuals die before birth or in early infancy. The cause of the condition is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner.
Question:  Is Fryns syndrome inherited ?
Answer: How is Fryns syndrome inherited? Although the exact cause of Fryns syndrome is not currently known (and no disease-causing gene has yet been identified), it is thought to be genetic because it tends to "run in families" and has features common to other genetic disorders. It appears to be inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell of the body (one copy inherited from each parent) have mutations. The parents of an affected individual are referred to as carriers, who 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.
Question:  What is (are) Tarsal tunnel syndrome ?
Answer: Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.
Question:  What are the symptoms of Tarsal tunnel syndrome ?
Answer: What symptoms are commonly seen in tarsal tunnel syndrome? The symptoms of tarsal tunnel syndrome can vary from person to person. The most common symptom of tarsal tunnel syndrome is foot and ankle pain. Individuals may also experience a burning or tingling sensation and numbness. These symptoms may occur when a person stands, walks, or wears a particular type of shoe. Pain usually worsens during walking and is relieved by rest.
Question:  What causes Tarsal tunnel syndrome ?
Answer: What causes tarsal tunnel syndrome? There are a variety of factors that may cause tarsal tunnel syndrome. These may include repetitive stress with activities, trauma (e.g., crush injury, stretch injury, fractures, ankle dislocations or sprains), flat feet, and excess weight. Additionally, any lesion that occupies space within the tarsal tunnel region may cause pressure on the nerve and subsequent symptoms. Examples include tendonitis, hematoma, tumor, varicose veins, and lower extremity edema.
Question:  What are the treatments for Tarsal tunnel syndrome ?
Answer: What treatment is available for tarsal tunnel syndrome? While we do not provide medical advice, the following have been reported as treatment options for tarsal tunnel syndrome. Individuals should discuss the various treatment options with their personal healthcare provider. Rest and ice Oral pain medications Steroid injections Local anesthetics Physical therapy Immobilization Orthotic devices Decompression surgery