Arthrogryposis-anterior horn cell disease syndrome is a rare neurological disorder that affects the muscles and joints. It is caused by a lack of nerve cells in the anterior horn of the spinal cord, which results in muscle weakness and joint stiff...

Arthrogryposis-ectodermal dysplasia syndrome (AEDS) is a rare genetic disorder that affects the development of the bones, muscles, and skin. It is characterized by joint contractures, abnormal skin, and hair, and nail abnormalities. It is caused b...

Arthrogryposis-hyperkeratosis syndrome, lethal form is a rare genetic disorder that affects the development of the bones and skin. It is characterized by multiple joint contractures, thickening of the skin, and a variety of other physical abnormal...

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is a rare genetic disorder characterized by the presence of a hand anomaly similar to arthrogryposis, as well as sensorineural deafness. It is caused by a mutation in the GJB2 gene, ...

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome (AOLES) is a rare genetic disorder characterized by multiple joint contractures, oculomotor limitation, and electroretinal anomalies. Affected individuals typically have limite...

Arthrogryposis-renal dysfunction-cholestasis syndrome (ARC) is a rare genetic disorder that affects the development of the muscles, kidneys, and liver. It is characterized by joint contractures, kidney dysfunction, and cholestasis (a condition in ...

Arthrogryposis-severe scoliosis syndrome is a rare genetic disorder that affects the development of the bones and muscles in the body. It is characterized by joint contractures, severe scoliosis, and muscle weakness. It can cause a variety of phys...

Arthroscopy facts Arthroscopy is a surgical procedure that can be performed for diagnosis and/or treatment of joint abnormalities. Arthroscopy is most often an outpatient procedure. Arthroscopy can be performed u...

ASAH1-Related Disorders is a group of rare genetic disorders caused by mutations in the ASAH1 gene. These disorders are characterized by a range of neurological symptoms, including intellectual disability, seizures, and movement disorders. They ca...

Asbestos intoxication is a condition caused by the inhalation of asbestos fibers. It is a form of poisoning that can lead to serious health problems, including lung cancer, mesothelioma, and asbestosis. Symptoms of asbestos intoxication include co...

What is the definition of asbestos? Asbestos is a family of naturally occurring silica compounds (similar to, but not the same as, the silica of window glass and computer chips). These substances form fibers with varying shapes and sizes a...

Ascher syndrome is a rare neurological disorder characterized by the combination of spastic diplegia (a form of cerebral palsy) and oculomotor apraxia (a disorder of eye movement). It is caused by a mutation in the gene that codes for the protein ...

Ascites is the accumulation of fluid (usually serous fluid which is a pale yellow and clear fluid) in the abdominal (peritoneal) cavity. The abdominal cavity is located below the chest cavity, separated from it by the diaphragm. Ascitic fluid can ...

Asherman syndrome is a condition in which the walls of the uterus become scarred and fused together. This can lead to infertility, recurrent miscarriages, and other complications. It is usually caused by damage to the uterine lining due to surgery...

Asherman's Syndrome is a condition in which the uterine walls become scarred and adhered to each other, resulting in the formation of bands of scar tissue. This can lead to infertility, recurrent miscarriages, and other complications. It is usuall...

Ashersona's Syndrome is a rare genetic disorder that affects the nervous system. It is characterized by a combination of physical and mental symptoms, including developmental delays, intellectual disability, seizures, and behavioral problems. It i...

Aspartylglucosaminuria (AGU) is a rare genetic disorder caused by a deficiency of the enzyme aspartylglucosaminidase. This enzyme is responsible for breaking down certain proteins in the body, and when it is deficient, these proteins accumulate in...

Aspartylglycosaminuria (AGU) is a rare inherited metabolic disorder caused by a deficiency of the enzyme aspartylglucosaminidase. It is characterized by the accumulation of certain complex carbohydrates in the body, which can lead to physical and ...