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How to diagnose Anophthalmia plus syndrome ? | How is anophthalmia plus syndrome diagnosed? A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with o... | |
What is (are) Littoral cell angioma of the spleen ? | Littoral cell angioma (LCA) is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, i... | |
What are the symptoms of Spastic paraplegia 19 ? | What are the signs and symptoms of Spastic paraplegia 19? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 19. 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 D... | |
What are the symptoms of Glomerulopathy with fibronectin deposits 2 ? | What are the signs and symptoms of Glomerulopathy with fibronectin deposits 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 2. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What are the symptoms of DCMA syndrome ? | What are the signs and symptoms of DCMA syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DCMA 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 loo... | |
What is (are) Aquagenic pruritus ? | Aquagenic pruritus is a condition in which contact with water of any temperature causes intense itching without any visible skin changes. The symptoms may begin immediately after contact with water and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described.... | |
What are the symptoms of Aquagenic pruritus ? | What symptoms are observed in patients who have aquagenic pruritus? Aquagenic pruritus causes intense itching in the parts of the body that come in contact with water without an associated rash. The head, palms, soles, and mucosa are usually not affected. | |
What causes Aquagenic pruritus ? | What causes aquagenic pruritus? The exact cause of aquagenic pruritus is unknown, but increased mast cell degranulation (release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system), increased circulating histamine, release of acet... | |
How to diagnose Aquagenic pruritus ? | How is aquagenic pruritus diagnosed? Criteria for diagnosis include : Severe itching, prickling, stinging, or burning that consistently develops after skin contact with water, regardless of water temperature or salinity; Lack of visible skin manifestations; Reaction within minutes of exposure and lasting anywhere betwe... | |
What are the treatments for Aquagenic pruritus ? | What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. Antihistamines are the mainstay of treatment. ... | |
What are the symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig ? | What are the signs and symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis-mental retardation syndrome of Lin and Gettig. If the information is available, the table below includes how often the sy... | |
What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblJ ? | What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblJ? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblJ. If the information is available, the table below includes how often the symptom is seen in p... | |
What are the symptoms of Mucopolysaccharidosis type IV ? | What are the signs and symptoms of Mucopolysaccharidosis type IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IV. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What is (are) Hypophosphatemic rickets ? | Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone defo... | |
What are the symptoms of Hypophosphatemic rickets ? | What are the signs and symptoms of Hypophosphatemic rickets? The symptoms of hypophosphatemic rickets usually begin in infancy or early childhood. Specific symptoms and severity can vary greatly among affected children. The condition can be so mild that there are no noticeable symptoms, or so severe that it causes bowi... | |
What causes Hypophosphatemic rickets ? | What causes hypophosphatemic rickets? Hypophosphatemic rickets is almost always hereditary and may be caused by mutations in any of several genes. The specific gene involved determines the way it is inherited. Most commonly, it is caused by a mutation in the PHEX gene. Other genes that can be responsible for the condit... | |
Is Hypophosphatemic rickets inherited ? | How is hypophosphatemic rickets inherited? Hypophosphatemic rickets is most often inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition. Because males have only one X ... | |
What are the symptoms of Rienhoff syndrome ? | What are the signs and symptoms of Rienhoff syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rienhoff 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 Dictionar... | |
What are the symptoms of Zlotogora syndrome ? | What are the signs and symptoms of Zlotogora syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zlotogora 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 Diction... | |
What is (are) Multifocal choroiditis ? | Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. T... | |
What are the symptoms of Multifocal choroiditis ? | What are the signs and symptoms of multifocal choroiditis? Multifocal choroiditis (MFC) generally causes blurry vision with or without sensitivity to light. Other common symptoms include blind spots, floaters, eye discomfort and perceived flashes of light. Clinical examination by an ophthalmologist reveals inflammation... | |
What causes Multifocal choroiditis ? | What causes multifocal choroiditis? Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area. | |
How to diagnose Multifocal choroiditis ? | How is multifocal choroiditis diagnosed? Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. When a person has MFC, lesions in the eye will appear as ... | |
What are the treatments for Multifocal choroiditis ? | How might multifocal choroiditis be treated? Multifocal choroiditis (MFC) is generally treated with steroid medication that can be taken orally or injected into the affected eye. These treatments may be successful in managing symptoms, though there is no permanent cure for the disease and symptoms may return. If a pers... | |
What is (are) Pantothenate kinase-associated neurodegeneration ? | Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. Th... | |
What are the symptoms of Pantothenate kinase-associated neurodegeneration ? | What are the signs and symptoms of Pantothenate kinase-associated neurodegeneration? There are two forms of PKAN, classical and atypical. Symptoms of classic PKAN develop during early childhood, usually before age 10. The first symptom is often difficutly with movement and walking. Children are often first considered c... | |
What are the treatments for Pantothenate kinase-associated neurodegeneration ? | How might pantothenate kinase-associated neurodegeneration (PKAN) be treated? Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. Baclofen and trihexyphenidyl remain the m... | |
What are the symptoms of Syngnathia multiple anomalies ? | What are the signs and symptoms of Syngnathia multiple anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Syngnathia multiple anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What is (are) Hemophilia ? | Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding i... | |
What are the symptoms of Bare lymphocyte syndrome 2 ? | What are the signs and symptoms of Bare lymphocyte syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bare lymphocyte syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | |
What are the symptoms of Charcot-Marie-Tooth disease type 1B ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Satoyoshi syndrome ? | Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia un... | |
What are the symptoms of Satoyoshi syndrome ? | What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi 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 Diction... | |
What is (are) Gilbert syndrome ? | Gilbert syndrome is a common, mild liver disorder in which the liver doesn't properly process bilirubin, a substance produced by the breakdown of red blood cells. Gilbert syndrome typically doesn't require treatment or pose serious complications. In fact, Gilbert syndrome is usually not considered a disease because of ... | |
What are the symptoms of Gilbert syndrome ? | What are the signs and symptoms of Gilbert syndrome? While many people with Gilbert syndrome never experience any symptoms, mild jaundice may occur if bilirubin levels get high enough. Other possible symptoms may include fatigue, weakness and abdominal pain. Patients may have more side effects from certain drugs such... | |
Is Gilbert syndrome inherited ? | How is Gilbert syndrome inherited? Gilbert syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of ... | |
How to diagnose Gilbert syndrome ? | Is genetic testing available for Gilbert syndrome? The Genetic Testing Registry provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care pr... | |
What are the treatments for Gilbert syndrome ? | How might Gilbert syndrome be treated? Gilbert syndrome generally doesn't require treatment. The bilirubin levels in the blood may fluctuate over time, causing episodes of jaundice. However, the jaundice is usually mild and goes away on its own. In some cases, doctors may prescribe phenobarbital to lower extremely elev... | |
What are the symptoms of Charcot-Marie-Tooth disease type 2N ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2N? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2N. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Townes-Brocks syndrome ? | Townes-Brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most affected individuals have at least two of these three main features. The condition is caused by mutations in the SA... | |
What are the symptoms of Townes-Brocks syndrome ? | What are the signs and symptoms of Townes-Brocks syndrome? Townes-Brocks syndrome is characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most people with this condition have at least two of these three major features. ... | |
What causes Townes-Brocks syndrome ? | What causes Townes-Brocks syndrome? Townes-Brocks syndrome is caused by mutations in the SALL1 gene. This gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcriptio... | |
Is Townes-Brocks syndrome inherited ? | Is Townes-Brocks syndrome genetic? Yes. Townes-Brocks syndrome is inherited in an autosomal dominant fashion, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50% of cases, an affected person inherits the mutation from an affected parent. The other 50% have the co... | |
How to diagnose Townes-Brocks syndrome ? | How is Townes-Brocks syndrome diagnosed? Townes-Brocks syndrome is diagnosed clinically based on the presence of the following: Imperforate anus Abnormally shaped ears Typical thumb malformations (preaxial polydactyly, triphalangeal thumbs which have three bones in them, much like the fingers, instead of the normal two... | |
What are the treatments for Townes-Brocks syndrome ? | Is there treatment for Townes-Brocks syndrome? Treatment is directed towards the specific symptoms, including immediate surgical intervention for imperforate anus; surgery for severe malformations of the hands; routine management of congenital heart defects; hemodialysis and possibly kidney transplantation for end-stag... | |
What are the symptoms of Hyperglycerolemia ? | What are the signs and symptoms of Hyperglycerolemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperglycerolemia. 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 Dictionar... | |
What are the symptoms of Acrocallosal syndrome, Schinzel type ? | What are the signs and symptoms of Acrocallosal syndrome, Schinzel type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocallosal syndrome, Schinzel type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What is (are) Erdheim-Chester disease ? | Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues a... | |
What are the symptoms of Erdheim-Chester disease ? | What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester disease. 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 Medic... | |
What causes Erdheim-Chester disease ? | What causes Erdheim-Chester disease? The specific underlying cause of Erdheim-Chester disease is not known. It is not currently categorized as a cancer, infection or autoimmune disease. It it not believed to be contagious or genetic in nature. | |
What is (are) Malakoplakia ? | Malakoplakia is a rare chronic inflammatory disease. It commonly involves the urinary tract, but may also involve the prostate, ureter, pelvis, bones, lungs, testes, gastrointestinal tract, skin, and kidney. Malakoplakia of the kidney is often associated with chronic kidney infection and obstruction. E. coli is the m... | |
What is (are) Familial amyloidosis, Finnish type ? | Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa ("sagging" skin).... | |
What are the symptoms of Familial amyloidosis, Finnish type ? | What are the signs and symptoms of Familial amyloidosis, Finnish type? Symptoms of this condition usually begin in an individual's 20s or 30s, and they usually emerge in a specific order. The progression is often slow, but varies among individuals. The typical triad of features includes accumulation of amyloid deposits... | |
What are the symptoms of Exstrophy of the bladder ? | What are the signs and symptoms of Exstrophy of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Exstrophy of the bladder. 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 Med... | |
What is (are) Antisynthetase syndrome ? | Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. The exact underlying caus... | |
What are the symptoms of Antisynthetase syndrome ? | What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or d... | |
What causes Antisynthetase syndrome ? | What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the pr... | |
How to diagnose Antisynthetase syndrome ? | How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of... | |
What are the treatments for Antisynthetase syndrome ? | What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications... | |
What is (are) Pelizaeus-Merzbacher disease ? | Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inabilit... | |
What are the symptoms of Pelizaeus-Merzbacher disease ? | What are the signs and symptoms of Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is divided into classic and severe (connatal) types. Although these two types differ in severity, their symptoms can overlap. Classic Pelizaeus-Merzbacher disease is the more common type. Within the first year of life, those a... | |
What causes Pelizaeus-Merzbacher disease ? | What causes Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is caused by mutations in the PLP1 gene. This gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central ... | |
Is Pelizaeus-Merzbacher disease inherited ? | How is Pelizaeus-Merzbacher disease inherited? | |
What are the treatments for Pelizaeus-Merzbacher disease ? | How might Pelizaeus-Merzbacher disease be treated? | |
What is (are) Hereditary fructose intolerance ? | Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. HFI... | |
What are the symptoms of Hereditary fructose intolerance ? | What are the signs and symptoms of Hereditary fructose intolerance? The symptoms of HFI include: Poor feeding as a baby Irritability Increased or prolonged neonatal jaundice Vomiting Convulsions Excessive sleepiness Intolerance for fruits Avoidance of fruits and fructose/sucrose-containing foods Doing well after eating... | |
What causes Hereditary fructose intolerance ? | What causes hereditary fructose intolerance (HFI)? HFI is caused by alterations (mutations) in the ALDOB gene. This gene provides instructions for making an enzyme called aldolase B. This enzyme is primarily found in the liver and is involved in the breakdown of fructose into energy. Mutations in the ALDOB gene reduce ... | |
Is Hereditary fructose intolerance inherited ? | How is hereditary fructose intolerance (HFI) inherited? HFI is inherited in an autosomal recessive manner, which means alterations (mutations) are present in both copies of the ALDOB gene. The parents of an individual with HFI each carry one copy of the mutated gene, but they typicaly do not show signs and symptoms of ... | |
What are the treatments for Hereditary fructose intolerance ? | How is hereditary fructose intolerance (HFI) treated? Complete elimination of fructose and sucrose from the diet is an effective treatment for most people, although this can be challenging. More information on treatment for HFI is available from the HFI Laboratory at Boston University at the following link. This page i... | |
What are the symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch ? | What are the signs and symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch. If the information is ... | |
What is (are) Cockayne syndrome type III ? | Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, toot... | |
What are the symptoms of Cockayne syndrome type III ? | What are the signs and symptoms of Cockayne syndrome type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type III. 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... | |
What is (are) Landau-Kleffner syndrome ? | Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. Typically, children with LKS... | |
What are the symptoms of Landau-Kleffner syndrome ? | What are the signs and symptoms of Landau-Kleffner syndrome? Landau-Kleffner syndrome is characterized by the sudden or gradual development of aphasia (the inability to understand or express language) in previously normal children along with an abnormal electro-encephalogram (EEG). It most frequently occurs in children... | |
How to diagnose Landau-Kleffner syndrome ? | How is Landau-Kleffner syndrome (LKS) diagnosed? LKS is diagnosed based on clinical features and the results of an electroencephalogram (EEG), a recording of the electric activity of the brain. All LKS children have abnormal electrical brain activity on both the right and left sides of their brains. | |
What are the symptoms of Brachydactyly type A2 ? | What are the signs and symptoms of Brachydactyly type A2? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A2. 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 D... | |
What is (are) Klippel Feil syndrome ? | Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in ... | |
What are the symptoms of Klippel Feil syndrome ? | What are the signs and symptoms of Klippel Feil syndrome? Klippel Feil syndrome is characterized by the fusion of 2 or more spinal bones in the neck (cervical vertebrae). The condition is present from birth (congenital). The 3 most common features include a low posterior hairline (at the back of the head); a short neck... | |
What causes Klippel Feil syndrome ? | What causes Klippel Feil syndrome (KFS)? The specific underlying causes and mechanisms of Klippel Feil syndrome (KFS)are not well understood. In general medical researchers believe KFS happens when the tissue of the embroyo that normally develops into separate vertebrae does not divide correctly. More specifically, ... | |
Is Klippel Feil syndrome inherited ? | Is Klippel Feil syndrome inherited? In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family. Both autosomal dominant and autosomal recessive inheritance patterns have be... | |
How to diagnose Klippel Feil syndrome ? | How is Klippel Feil syndrome diagnosed? Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of ... | |
What are the treatments for Klippel Feil syndrome ? | How might Klippel-Feil syndrome be treated? There is no cure for Klippel Feil syndrome (KFS); treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. Careful evaluation, consistent follow-up, and coordination with various specialists are n... | |
What is (are) Familial hemiplegic migraine type 2 ? | 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 m... | |
What are the symptoms of Familial hemiplegic migraine type 2 ? | What are the signs and symptoms of Familial hemiplegic migraine type 2? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g.... | |
What are the treatments for Familial hemiplegic migraine type 2 ? | How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic ... | |
What are the symptoms of Sjogren-Larsson-like syndrome ? | What are the signs and symptoms of Sjogren-Larsson-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson-like 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 Medli... | |
What are the symptoms of Epidermolysa bullosa simplex with muscular dystrophy ? | What are the signs and symptoms of Epidermolysa bullosa simplex with muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysa bullosa simplex with muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in peo... | |
What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ? | What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation a... | |
What are the symptoms of Gastric lymphoma ? | What are the signs and symptoms of Gastric lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastric lymphoma. 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 ... | |
What is (are) Friedreich ataxia ? | Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity)... | |
What are the symptoms of Friedreich ataxia ? | What are the signs and symptoms of Friedreich ataxia? Symptoms usually begin between the ages of 5 and 15 but can, on occasion, appear in adulthood or even as late as age 75. The first symptom to appear is usually difficulty in walking, or gait ataxia. The ataxia gradually worsens and slowly spreads to the arms and the... | |
What causes Friedreich ataxia ? | What causes Friedreich ataxia? Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one g... | |
Is Friedreich ataxia inherited ? | How is Friedreich ataxia inherited? Friedreich ataxia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as... | |
What are the symptoms of 20p12.3 microdeletion syndrome ? | What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion 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 Med... | |
What is (are) Pyomyositis ? | Pyomyositis is rare bacterial infection of the skeletal muscle (the muscles used for movement). Signs and symptoms may include pain and tenderness of the affected muscle, fever, and abscess formation. If left untreated, the abscess may extend into the bone and joint or blood poisoning may occur. Approximately 90% of ca... | |
What are the symptoms of Pyomyositis ? | What are the signs and symptoms of Pyomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyomyositis. 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... | |
What is (are) Lipoid proteinosis of Urbach and Wiethe ? | Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the sk... | |
What are the symptoms of Lipoid proteinosis of Urbach and Wiethe ? | What are the signs and symptoms of Lipoid proteinosis of Urbach and Wiethe? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoid proteinosis of Urbach and Wiethe. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the treatments for Lipoid proteinosis of Urbach and Wiethe ? | How might lipoid proteinosis of Urbach and Wiethe be treated? There is currently no cure for lipoid proteinosis (LP) of Urbach and Wiethe. Treatment is based on the signs and symptoms present in each person. The skin abnormalities found in people affected by LP may be treated with certain medications, including cortico... | |
What is (are) Neurofibroma ? | A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common. |
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