Questions stringlengths 14 191 | Answers stringlengths 6 29k ⌀ |
|---|---|
What is (are) Emery-Dreifuss muscular dystrophy, X-linked ? | null |
What are the symptoms of Emery-Dreifuss muscular dystrophy, X-linked ? | What are the signs and symptoms of Emery-Dreifuss muscular dystrophy, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Emery-Dreifuss muscular dystrophy, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) VACTERL association ? | VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart... |
What are the symptoms of VACTERL association ? | What are the signs and symptoms of VACTERL association? The Human Phenotype Ontology provides the following list of signs and symptoms for VACTERL association. 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 Dicti... |
What causes VACTERL association ? | Is VACTERL association inherited, or does it have a genetic component? A specific, consistent, genetic abnormality has not been identified in individuals with VACTERL association. A very few sporadic cases of VACTERL association have been associated with mutations in FGF8, HOXD13, ZIC3, PTEN, FANCB, FOXF1, and TRAP1 ge... |
How to diagnose VACTERL association ? | Is genetic testing available for VACTERL association? Because there is no known cause of VACTERL association, clinical genetic testing is not available for the condition. If an individual has a specific diagnosis of another syndrome or genetic condition in addition to the features of VACTERL association, genetic testin... |
What are the symptoms of Epiphyseal dysplasia hearing loss dysmorphism ? | What are the signs and symptoms of Epiphyseal dysplasia hearing loss dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia hearing loss dysmorphism. If the information is available, the table below includes how often the symptom is seen in people with this ... |
What is (are) Gigantomastia ? | Gigantomastia is a rare condition that is characterized by excessive breast growth that may occur spontaneously, during puberty or pregnancy, or while taking certain medications. To date, there is no universally accepted definition for gigantomastia; however, Dancey et al. (2007) state that a review of the medical lite... |
What are the treatments for Gigantomastia ? | What treatment might be available for someone who has had recurrence of gigantomastia following a breast reduction? Breast reduction with or without hormonal therapy is often the first line of treatment for women who have gigantomastia. However, recurrence of gigantomastia may occur, requiring a second breast reduction... |
What are the symptoms of Cone dystrophy X-linked with tapetal-like sheen ? | What are the signs and symptoms of Cone dystrophy X-linked with tapetal-like sheen? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy X-linked with tapetal-like sheen. If the information is available, the table below includes how often the symptom is seen in people with t... |
What are the symptoms of Patent ductus venosus ? | What are the signs and symptoms of Patent ductus venosus? The Human Phenotype Ontology provides the following list of signs and symptoms for Patent ductus venosus. 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 Meckel syndrome type 2 ? | What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 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 Medical... |
What are the symptoms of Gestational trophoblastic tumor ? | What are the signs and symptoms of Gestational trophoblastic tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Gestational trophoblastic tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What is (are) Weill-Marchesani syndrome ? | Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this condition have short stature; short fingers; and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes abnormalities of the lens of the eye that lead to severe n... |
What are the symptoms of Weill-Marchesani syndrome ? | What are the signs and symptoms of Weill-Marchesani syndrome? Variability in symptoms exist among individuals who have Weill-Marchesani syndrome. The features of this condition include proportionate short stature, short fingers (called brachdactyly), and joint stiffness. Eye problems are typically recognized in childho... |
What causes Weill-Marchesani syndrome ? | What causes Weill-Marchesani syndrome? Weill-Marchesani syndrome is usually caused by mutations in the ADAMTS10 gene. Two families have been found with mutations in different genes, one with a mutation in FBN1 and one with a mutation in LTBP2. |
How to diagnose Weill-Marchesani syndrome ? | How is Weill-Marchesani syndrome diagnosed? The diagnosis of Weill-Marchesani syndrome is made on the presence of the characteristic signs and symptoms. Genetic testing can help confirm the diagnosis. The Genetic Testing Registry (GTR) provides information on the genetic tests available for Weill-Marchesani syndrome. T... |
What are the treatments for Weill-Marchesani syndrome ? | How might Weill-Marchesani syndrome be treated? There is no cure for Weill-Marchesani syndrome, and treatment focuses addressing the symptoms that develop. Individuals with this condition often need a team of medical specialists, including pediatricians, eye specialists (ophthalmologists and optometrists), orthopedists... |
What are the symptoms of Familial colorectal cancer ? | What are the signs and symptoms of Familial colorectal cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial colorectal cancer. 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) Carney complex ? | Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney com... |
What are the symptoms of Carney complex ? | What are the signs and symptoms of Carney complex? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney complex. 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 l... |
What are the symptoms of Legius syndrome ? | What are the signs and symptoms of Legius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Legius 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... |
What is (are) Congenital chloride diarrhea ? | Congenital chloride diarrhea is a condition characterized by large, watery stools containing an excess of chloride. Individuals have intrauterine (pre-birth) and lifelong diarrhea; infants with the condition are often premature. The excessive diarrhea causes electrolyte and water deficits, which in turn cause volume de... |
What are the symptoms of Congenital chloride diarrhea ? | What are the signs and symptoms of Congenital chloride diarrhea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital chloride diarrhea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... |
What are the treatments for Congenital chloride diarrhea ? | How might congenital chloride diarrhea be treated? There is no cure for the underlying condition, so treatment mainly focuses on the symptoms. Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth... |
What is (are) Myotonic dystrophy type 1 ? | Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas). Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (presen... |
What are the symptoms of Myotonic dystrophy type 1 ? | What are the signs and symptoms of Myotonic dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy type 1. 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 M... |
Is Myotonic dystrophy type 1 inherited ? | How is myotonic dystrophy type 1 inherited? Myotonic dystrophy type 1 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. As myotonic dystrophy is passed from one generation t... |
What are the treatments for Myotonic dystrophy type 1 ? | How might myotonic dystrophy type 1 associated vision problems be treated? Treatment of eye and vision problems must be individually tailored. Refractive error and astigmatism can be corrected with eyeglasses, contact lenses, or surgery. Special glasses with eye "crutches" can be used to improve vision in people with p... |
What is (are) 16q24.3 microdeletion syndrome ? | 16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spec... |
What are the symptoms of 16q24.3 microdeletion syndrome ? | What are the signs and symptoms of 16q24.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 16q24.3 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) Borjeson-Forssman-Lehmann syndrome ? | Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chrom... |
What are the symptoms of Borjeson-Forssman-Lehmann syndrome ? | What are the signs and symptoms of Borjeson-Forssman-Lehmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Borjeson-Forssman-Lehmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What are the symptoms of Oculodentoosseous dysplasia recessive ? | What are the signs and symptoms of Oculodentoosseous dysplasia recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentoosseous dysplasia recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
What is (are) Acute zonal occult outer retinopathy ? | Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include "whitening of vision" or blurred vision.... |
What are the symptoms of GTP cyclohydrolase I deficiency ? | What are the signs and symptoms of GTP cyclohydrolase I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for GTP cyclohydrolase I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What is (are) Asperger syndrome ? | Asperger syndrome (AS) is an autism spectrum disorder, a type of neurological condition characterized by impaired language and communication skills, and repetitive or restrictive thought and behavior patterns. Unlike many people with autism, those with AS retain their early language skills. Features of AS include an ob... |
Is Asperger syndrome inherited ? | Is Asperger syndrome inherited? Autism spectrum disorders including Asperger syndrome sometimes "run in families," but no specific inheritance pattern has been recognized. The condition is likely caused by a combination of genetic and environmental factors, which means that not all people with a genetic predisposition ... |
What is (are) Lymphocytic vasculitis ? | Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is n... |
What are the symptoms of Lymphocytic vasculitis ? | What are the signs and symptoms of Lymphocytic vasculitis? Lymphocytic vasculitis can cause a number of different symptoms. Hives, red or purplish discolored patches, a bump (nodule), or an open sore (ulcer) have all been described as symptoms of this condition. The size, location, and severity of symptoms varies wid... |
What causes Lymphocytic vasculitis ? | What causes lymphocytic vasculitis? Lymphocytic vasculitis is thought to be caused by a number of different factors, such as infection, trauma, drug reaction, or an underlying condition such as arthritis. Because this condition is rare and not yet well understood, it is believed that a full list of possible causes has... |
What are the symptoms of Nephropathy, deafness, and hyperparathyroidism ? | What are the signs and symptoms of Nephropathy, deafness, and hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathy, deafness, and hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with thi... |
What are the symptoms of Cardiac valvular dysplasia, X-linked ? | What are the signs and symptoms of Cardiac valvular dysplasia, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiac valvular dysplasia, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What are the symptoms of Maple syrup urine disease type 1A ? | What are the signs and symptoms of Maple syrup urine disease type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... |
What is (are) Temporomandibular ankylosis ? | Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nut... |
What is (are) Crusted scabies ? | Crusted scabies (also called Norwegian scabies) is a severe form of scabies that most often occurs in people who have a weakened immune system, neurological disease, the elderly, the disabled, or those who are mentally incapacitated. It is characterized by thick crusts of skin that contain large numbers of scabies mite... |
What is (are) Mollaret meningitis ? | Mollaret meningitis is a rare type of meningitis that is characterized by repeated episodes of fever, stiff neck (meningismus), muscle aches, and severe headaches separated by weeks or months of no symptoms. About half of affected individuals may also experience long-term abnormalities of the nervous system that come ... |
What are the symptoms of Mollaret meningitis ? | What are the symptoms of Mollaret meningitis? The symptoms of Mollaret meningitis are the same as those found in other types of meningitis. In Mollaret meningitis, however, the symptoms are recurring and are often accompanied by long-term irregularity of the nervous system. Common symptoms of meningitis may include: Hi... |
What are the symptoms of Graham Boyle Troxell syndrome ? | What are the signs and symptoms of Graham Boyle Troxell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham Boyle Troxell 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 is (are) Epithelioid sarcoma ? | Epithelioid sarcoma is a rare cancer that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It may also be found in the legs, trunk, head or neck regions. It is rare in young children and adults, and it occurs more frequently in men. Epithelioid sarcoma begins as a painless, fi... |
What is (are) Twin twin transfusion syndrome ? | Twin-to-twin transfusion syndrome is a rare condition that occurs when blood moves from one identical twin (the donor twin) to the other (the recipient twin) while in the womb. The donor twin may be born smaller, with paleness, anemia, and dehydration. The recipient twin may be born larger, with redness, too much blood... |
What is (are) Limb-girdle muscular dystrophy type 2A ? | Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without cardiac involvement or intellectual disability. The condition is caused... |
What are the symptoms of Limb-girdle muscular dystrophy type 2A ? | What are the signs and symptoms of Limb-girdle muscular dystrophy type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
What are the symptoms of Charlie M syndrome ? | What are the signs and symptoms of Charlie M syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Charlie M 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) Sacrococcygeal Teratoma ? | A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign, there is a possibility that the teratoma could become malignant. As such, the recommended tre... |
What are the treatments for Sacrococcygeal Teratoma ? | How might a sacrococcygeal teratoma be treated? The treatment for sacrococcygeal teratoma (SCT) typically involves surgery to remove the tumor. Surgery occurs either in the prenatal period or shortly after delivery. The timing is dependent on the size of the tumor and the associated symptoms. To learn more about both p... |
What is (are) Wolffian tumor ? | Wolffian tumors are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. Wolffian tumors are thought to have a low potenti... |
What are the symptoms of Congenital torticollis ? | What are the signs and symptoms of Congenital torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital torticollis. 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... |
What is (are) Progressive bulbar palsy ? | Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Add... |
How to diagnose Progressive bulbar palsy ? | How is progressive bulbar palsy diagnosed? What tests aid in the diagnosis of progressive bulbar palsy? Progressive bulbar palsy is a difficult to diagnose condition. No one test or procedure offers a definitive diagnosis. Diagnosis is largely based upon the person's symptoms, tests that show how well their nerves are ... |
What are the treatments for Progressive bulbar palsy ? | How is progressive bulbar palsy treated? Treatments aim to help people cope with the symptoms of progressive bulbar palsy, such as feeding tubes, devices to help with talking, and medicines to treat muscle spasms, weakness, drooling, sleep problems, pain, and depression. The Robert Packard Center for ALS Research at Jo... |
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 Glomerulonephritis with sparse hair and telangiectases ? | What are the signs and symptoms of Glomerulonephritis with sparse hair and telangiectases? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulonephritis with sparse hair and telangiectases. If the information is available, the table below includes how often the symptom is seen in... |
What is (are) Freeman Sheldon syndrome ? | Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Freeman-Sheldon syndrome can be inh... |
What are the symptoms of Freeman Sheldon syndrome ? | What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon 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 Med... |
How to diagnose Freeman Sheldon syndrome ? | How is Freeman Sheldon syndrome diagnosed? Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose. A definitive diagnosi... |
What is (are) L-2-hydroxyglutaric aciduria ? | L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the br... |
What are the symptoms of L-2-hydroxyglutaric aciduria ? | What are the signs and symptoms of L-2-hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for L-2-hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... |
What is (are) Intrahepatic cholangiocarcinoma ? | Intrahepatic cholangiocarcinoma is a cancer that develops in the cells within the bile ducts; both inside and outside the liver. The terms cholangiocarinoma and bile duct cancer are often used to refer to the same condition. This condition occurs slightly more often in males than females and usually affects people who ... |
What are the treatments for Intrahepatic cholangiocarcinoma ? | How might intrahepatic cholangiocarcinoma be treated? Can it be cured? Surgery to completely remove the bile duct and tumor is the only option that can possibly lead to a cure for patients. The type of operation will depend on the size and location of the cancer. For cases of intrahepatic cancers that cannot be surgica... |
What is (are) Nonspherocytic hemolytic anemia due to hexokinase deficiency ? | Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar t... |
What are the symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency ? | What are the signs and symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency? Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA). The signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency, a more common inherited ca... |
What causes Nonspherocytic hemolytic anemia due to hexokinase deficiency ? | What causes nonspherocytic hemolytic anemia due to hexokinase deficiency? Nonspherocytic hemolytic anemia due to hexokinase deficiency has been shown to be caused by mutations in the HK1 gene, which cause at least a partial deficiency of the enzyme hexokinase. This enzyme plays an important role in the chemical process... |
Is Nonspherocytic hemolytic anemia due to hexokinase deficiency inherited ? | How is nonspherocytic hemolytic anemia due to hexokinase deficiency inherited? Nonspherocytic hemolytic anemia due to hexokinase deficiency is inherited in an autosomal recessive manner. This means that a mutation in both copies of the gene associated with the condition must be present in order to be affected. The pare... |
What are the treatments for Nonspherocytic hemolytic anemia due to hexokinase deficiency ? | How might nonspherocytic hemolytic anemia due to hexokinase deficiency be treated? When severe anemia is present, blood transfusions may be necessary. Affected individuals should avoid any drugs that can cause destruction of red blood cells, as well as any environmental triggers that may be identified. |
What are the symptoms of Epidermolysis bullosa, lethal acantholytic ? | What are the signs and symptoms of Epidermolysis bullosa, lethal acantholytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, lethal acantholytic. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What is (are) Diffuse idiopathic skeletal hyperostosis ? | Diffuse idiopathic skeletal hyperostosis (DISH) is a form of degenerative arthritis in which the ligaments (connective tissues that connect bones) around the spine turn into bone. Many people with this condition do not experience any symptoms. When present, the most common features are pain and stiffness of the upper b... |
What are the symptoms of Diffuse idiopathic skeletal hyperostosis ? | What are the signs and symptoms of Diffuse idiopathic skeletal hyperostosis? Many people affected by diffuse idiopathic skeletal hyperostosis (DISH) have no signs or symptoms of the condition. When present, symptoms vary but many include: Stiffness which is most noticeable in the morning Pain when pressure is applied t... |
What causes Diffuse idiopathic skeletal hyperostosis ? | What causes diffuse idiopathic skeletal hyperostosis ? The exact underlying cause of diffuse idiopathic skeletal hyperostosis (DISH) is poorly understood. However, several factors have been associated with an increased risk of developing the condition. For example, conditions that disturb cartilage metabolism (such as ... |
How to diagnose Diffuse idiopathic skeletal hyperostosis ? | How is diffuse idiopathic skeletal hyperostosis diagnosed? A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected based on the presence of characteristic signs and symptoms. X-rays may then be ordered to confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic res... |
What are the treatments for Diffuse idiopathic skeletal hyperostosis ? | How might diffuse idiopathic skeletal hyperostosis be treated? Treatment of diffuse idiopathic skeletal hyperostosis (DISH) is focused on the signs and symptoms present in each person. For example, pain caused by DISH is often treated with pain relievers, such as acetaminophen (Tylenol, others) or nonsteroidal anti-inf... |
What are the symptoms of Richieri Costa Da Silva syndrome ? | What are the signs and symptoms of Richieri Costa Da Silva syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Richieri Costa Da Silva 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... |
What is (are) Kienbock's disease ? | Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma... |
What are the symptoms of Kienbock's disease ? | What are the signs and symptoms of Kienbock's disease? Kienbock's disease most commonly affects men between the ages of 20 and 40 years, but it affects women as well. Most affected people report a history of trauma to the wrist. Symptoms can vary depending on the stage of the condition, but usually include pain that is... |
Is Kienbock's disease inherited ? | Is Kienbock's disease inherited? There is currently no evidence that Kienbock's disease is inherited. However, the cause of Kienbock's disease is not known. It is possible that unidentified genetic factors contribute to the development of the condition. |
What are the treatments for Kienbock's disease ? | What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medi... |
What is (are) WAGR syndrome ? | WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or interna... |
What are the symptoms of WAGR syndrome ? | What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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) Glutaric acidemia type I ? | Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (partic... |
What are the symptoms of Glutaric acidemia type I ? | What are the signs and symptoms of Glutaric acidemia type I? The specific symptoms and severity in people with glutaric acidemia type 1 (GA1) can vary widely. Some people are mildly affected, while others have severe problems. Signs and symptoms usually first occur in infancy or early childhood, but sometimes symptoms ... |
Is Glutaric acidemia type I inherited ? | How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one muta... |
How to diagnose Glutaric acidemia type I ? | Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions abou... |
What is (are) Combined malonic and methylmalonic aciduria ? | Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. People with CMAMMA can have a wide variety of symptoms. Children with CMAMMA can suffer from developmental delays and a failure to gain weight and grow (fa... |
What are the symptoms of Combined malonic and methylmalonic aciduria ? | What are the signs and symptoms of Combined malonic and methylmalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined malonic and methylmalonic aciduria. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) Chester porphyria ? | Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria ar... |
What is (are) Lipedema ? | Lipedema is a syndrome characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin, which is often painful. It is a common condition affecting up to 11% of women The underlying cause is currently unknown; however many people with lipedema have a family history of similarly enlarged legs... |
What are the symptoms of Lipedema ? | What are the signs and symptoms of lipedema? Signs and symptoms of lipedema include enlarged legs extending from the buttocks to the ankles. This enlargement can be painful. The size of the legs are typically out of proportion to the upper body (despite the individuals BMI). The feet are much less involved or spared en... |
What causes Lipedema ? | What causes lipedema? The cause of lipedema is unknown. Hormones appear to play a role, especially considering that the condition occurs almost entirely in females and often develops after puberty or other periods of hormone change (e.g., pregnancy, menopause). Although people who are obese may be overrepresented among... |
What are the treatments for Lipedema ? | How might lipedema be treated? Treatment options for lipedema are limited. A number of therapies that have been tried with minimal success include dieting, diuretics, leg elevation, and compression. Invasive treatments such as lipectomy or liposuction are not recommended because they risk causing damage to the lymphati... |
What are the symptoms of Oculomaxillofacial dysostosis ? | What are the signs and symptoms of Oculomaxillofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculomaxillofacial dysostosis. 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... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.