sarnsrun/medquad huggingface dataset:
Topic: Filippi syndrome
Question: What are the treatments for Filippi syndrome ?
Answer: How might Filippi syndrome be treated? The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. These professionals may include pediatricians; physicians who specialize in disorders of the skeleton, joints, muscles, and related tissues (orthopedists); and/or other health care professionals. In some affected individuals, treatment may include surgical repair of certain skeletal or other abnormalities associated with the disorder. The surgical procedures performed will depend upon the severity of the abnormalities, their associated symptoms, and other factors.
Source: GARD
Topic: Pseudoainhum
Question: What are the symptoms of Pseudoainhum ?
Answer: What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. 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.
Source: GARD
Topic: Hemorrhagic shock and encephalopathy syndrome
Question: What is (are) Hemorrhagic shock and encephalopathy syndrome ?
Answer: Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disease that occurs suddenly in previously healthy children. This condition is characterized by severe shock, coagulopathy, encephalopathy, and liver and kidney dysfunction. Most cases of HSES occur in infants from age 3 to 8 months, although it can also occur in older children. Individuals with HSES have extremely high body temperatures and multiple organ failures. This condition often causes long term neurological problems or death. The cause of the HSES is unknown.hs
Source: GARD
Topic: Hemorrhagic shock and encephalopathy syndrome
Question: What causes Hemorrhagic shock and encephalopathy syndrome ?
Answer: What causes hemorrhagic shock and encephalopathy syndrome? The cause of hemorrhagic shock and encephalopathy syndrome is unknown. Some researchers believe that this condition is caused by a complex combination of genetic and environmental factors. Researchers have proposed various factors that may contribute to the development of this condition, including infection, exposure to toxins in the environment, and overwrapping of infants with a fever. Hemorrhagic shock and encephalopathy syndrome has not been reported to be associated with a specific ethnic group or religious background.
Source: GARD
Topic: Congenital primary aphakia
Question: What is (are) Congenital primary aphakia ?
Answer: Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion. Click here to view a diagram of the eye.
Source: GARD
Topic: Congenital primary aphakia
Question: What are the symptoms of Congenital primary aphakia ?
Answer: What are the signs and symptoms of Congenital primary aphakia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital primary aphakia. 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) Aniridia - Anterior segment of eye aplasia - Autosomal recessive inheritance - Congenital primary aphakia - Microphthalmia - Sclerocornea - 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: Wandering spleen
Question: What is (are) Wandering spleen ?
Answer: Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen may occur during adulthood due to injuries or other underlying conditions that may weaken the ligaments that hold the spleen. Symptoms of wandering spleen may include englargement of the spleen (splenomegaly), abdominal pain, intestinal obstruction, nausea, vomiting, fever, and a lump in the abdomen or the pelvis. Some individuals with this condition do not have symptoms. Treatment for this condition involes removal of the spleen (splenectomy).
Source: GARD
Topic: Wandering spleen
Question: What are the treatments for Wandering spleen ?
Answer: How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal. Splenopexy (surgically fixing the floating spleen) is associated with a high risk of recurrence and complications and is not the preferred treatment choice.
Source: GARD
Topic: Spondyloepimetaphyseal dysplasia, Aggrecan type
Question: What are the symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type ?
Answer: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia, Aggrecan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent nasal bridge 3/3 Barrel-shaped chest 3/3 Broad thumb 3/3 Joint laxity 3/3 Low-set ears 3/3 Lumbar hyperlordosis 3/3 Malar flattening 3/3 Mandibular prognathia 3/3 Mesomelia 3/3 Posteriorly rotated ears 3/3 Relative macrocephaly 3/3 Rhizomelia 3/3 Short finger 3/3 Short neck 3/3 Hoarse voice 2/3 Autosomal recessive inheritance - Spondyloepimetaphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Priapism
Question: What are the symptoms of Priapism ?
Answer: What are the signs and symptoms of Priapism? The Human Phenotype Ontology provides the following list of signs and symptoms for Priapism. 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 - Priapism - 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: Inflammatory myofibroblastic tumor
Question: What is (are) Inflammatory myofibroblastic tumor ?
Answer: An inflammatory myofibroblastic tumor (IMT) is an uncommon, presumably benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery. Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and occasionally become locally invasive and/or spread (metastasize) to other parts of the body. The underlying cause of IMTs is poorly understood. Some cases have been linked to translocations involving the ALK gene. Treatment involves surgical removal when possible, although there are reports of treatment with oral steroids and radiation therapy.
Source: GARD
Topic: Inflammatory myofibroblastic tumor
Question: What causes Inflammatory myofibroblastic tumor ?
Answer: What causes inflammatory myofibroblastic tumors? The underlying cause of inflammatory myofibroblastic tumors (IMTs) remains unknown. While some researchers believe it is a true neoplasm, others believe that it represents an immunologic response to an infectious or noninfectious agent. Several associations have been reported between IMT and infections, including: organizing pneumonia Mycobacterium avium intracellulare Corynebacterium equi (a bacteria that affects the lungs) Campylobacter jejuni (a common cause of gastroenteritis) Bacillus sphaericus Coxiella burnetii Epstein-Barr virus E. coli occlusive phlebitis of intrahepatic veins Associations have also been reported between IMT and: previous abdominal surgery trauma ventriculoperitoneal shunt radiation therapy steroid usage An inflammatory reaction to an underlying, low-grade malignancy has also been proposed as a cause. Because there is limited information available to support or refute any of these, the mechanism behind the development of IMTs is still unclear.
Source: GARD
Topic: Hantavirus pulmonary syndrome
Question: What is (are) Hantavirus pulmonary syndrome ?
Answer: Hantavirus pulmonary syndrome (HPS) is a severe, respiratory disease caused by infection with a hantavirus. People can become infected with a hantavirus through contact with hantavirus-infected rodents or their saliva, urine and/or droppings. Early symptoms universally include fatigue, fever and muscle aches (especially in the thighs, hips, and/or back), and sometimes include headaches, dizziness, chills, and abdominal problems such as nausea, vomiting, diarrhea, and pain. Later symptoms of the syndrome occur 4 to 10 days after initial onset and include coughing and shortness of breath. HPS can be fatal; approximately 38% of individuals with HPS do not survive. There is no cure or specific treatment for HPS, but early diagnosis and treatment in intensive care may increase the chance of recovery.
Source: GARD
Topic: Branchiootorenal syndrome
Question: What is (are) Branchiootorenal syndrome ?
Answer: Branchiootorenal syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by mutations in the EYA1, SIX1, or SIX5 genes. It is passed through families in an autosomal dominant fashion. Treatment may include surgery to remove the anomalies of the neck (i.e., branchial fistulae or cysts), careful assessment and management of hearing loss, and follow-up by a kidney specialist (nephrologist). In some cases dialysis or kidney transplant may be required.
Source: GARD
Topic: Branchiootorenal syndrome
Question: What causes Branchiootorenal syndrome ?
Answer: What causes branchiootorenal syndrome? Mutations in the genes, EYA1, SIX1, and SIX5, are known to cause branchiootorenal syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 and SIX5 mutations are much less common causes of the disorder. There are likely other genes that have not yet been identified that when mutated can cause this syndrome as well.
Source: GARD
Topic: Branchiootorenal syndrome
Question: Is Branchiootorenal syndrome inherited ?
Answer: Is branchiootorenal syndrome inherited? Branchiootorenal syndrome may be inherited or occur sporadically. The inheritance pattern of branchiootorenal syndrome is autosomal dominant. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Autosomal dominant conditions may occur for the first time in a person in a family due to a spontaneous gene mutation, or these conditions may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition.
Source: GARD
Topic: Branchiootorenal syndrome
Question: What are the treatments for Branchiootorenal syndrome ?
Answer: How might branchiootorenal syndrome be treated? Hereditary hearing loss conditions, in general, tend to be managed by a team that includes an otolaryngologist, an audiologist, a clinical geneticist, a pediatrician, sometimes an educator of the Deaf, a neurologist, and in case of branchiootorenal syndrome, a nephrologist (kidney doctor). Treatment of hearing loss may include determining which aids would be most helpful, for example hearing aids or vibrotactile devices; cochlear implantation may be considered in children over age 12 months with severe-to-profound hearing loss. Early hearing intervention through amplification, surgery, or cochlear implantation may be recommended for children who are at risk to lose their hearing before they learn to speak. People with hereditary hearing loss often require regular follow-up with a hearing specialist such as an audiologist to monitor stability or progression of the hearing loss. Treatment of branchial fistulae or cysts may require surgery. For people with branchiootorenal syndrome and severe kidney malformations or complications, dialysis or kidney transplant may be required.
Source: GARD
Topic: Mosaic trisomy 8
Question: What is (are) Mosaic trisomy 8 ?
Answer: Mosaic trisomy 8 is a chromosome disorder defined by the presence of three copies of chromosome 8 in some cells of the body. It is characterized by distinctive facial features; mild intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. In the absence of serious problems, life expectancy is normal. Complete trisomy 8 is lethal and often results in miscarriage during the first trimester. Mosaic trisomy 8 is the result of a random error in the egg or sperm. Diagnosis is based on karyotype analysis. Mosaic trisomy 8 almost always occurs in individuals with no family history of the condition.
Source: GARD
Topic: Spinocerebellar ataxia X-linked type 3
Question: What are the symptoms of Spinocerebellar ataxia X-linked type 3 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia X-linked type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia X-linked 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) Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Optic atrophy 90% Sensorineural hearing impairment 90% Areflexia - Cerebellar atrophy - Death in infancy - Dementia - Dysmetria - Dysphagia - Episodic hypoventilation - Episodic respiratory distress - Esotropia - Gastroesophageal reflux - Gliosis - Head titubation - Hyporeflexia - Infantile onset - Intention tremor - Lethargy - Muscle weakness - Neuronal loss in central nervous system - Optic disc pallor - Recurrent respiratory infections - Seizures - Spasticity - Unilateral vocal cord paralysis - Vomiting - 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.
Source: GARD
Topic: Microcephaly-albinism-digital anomalies syndrome
Question: What are the symptoms of Microcephaly-albinism-digital anomalies syndrome ?
Answer: What are the signs and symptoms of Microcephaly-albinism-digital anomalies syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly-albinism-digital anomalies 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) Aplasia/Hypoplasia of the distal phalanges of the toes 90% Cognitive impairment 90% Generalized hypopigmentation 90% Microcephaly 90% Ocular albinism 90% Short distal phalanx of finger 90% Albinism - 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: Coccygodynia
Question: What is (are) Coccygodynia ?
Answer: Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury.
Source: GARD
Topic: Coccygodynia
Question: What are the symptoms of Coccygodynia ?
Answer: What signs and symptoms are associated with coccygodynia? The classic symptom is pain when pressure is applied to the tailbone, such as when sitting on a hard chair. Symptoms usually improve with relief of pressure when standing or walking . Other symptoms include : Immediate and severe pain when moving from sitting to standing Pain during bowel movements Pain during sex Deep ache in the region of the tailbone
Source: GARD
Topic: Coccygodynia
Question: What causes Coccygodynia ?
Answer: What causes coccygodynia? A number of different causes have been associated with coccygodynia. However, the most common cause is a direct fall and injury to the area of the sacrum and coccyx. These types of injuries can occur from various activities, examples include a kick, an injury on a trampoline when one hits the bar or springs that surround the trampoline jumping pad, or from falling from a horse or skis. Another common cause, exclusive to women, is childbirth. The other most common cause of the condition is pregnancy. During the last three months of pregnancy, certain hormones are released in the women's body causing the area between the sacrum and the coccyx to soften and become more mobile. The increased mobility may result in permanent stretching and change and causing inflammation of the tissues surrounding the coccyx. In about one third of all cases of coccygodynia, the cause is unknown. Other less common causes include nerve damage, cysts such as Tarlov cysts, obesity, and a bursitis like condition that can arise in slim patients who have little buttocks fat padding.
Source: GARD