Genetic_disorders Genetic_disorders Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). Telangiectasias are small, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT. The 'ataxia' part of the name refers to the difficulty patients with AT have walking. At early age, the child's walking becomes wobbley, at teens handicapped-bound and at the early 20s, it becomes fatal. ...more on Wikipedia about "Ataxia telangiectasia"
Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is inherited in an autosomal dominant pattern and is uncommon occurring in an estimated 1 in 125,000 births. ...more on Wikipedia about "Rubinstein-Taybi syndrome"
Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right. As with other forms of ataxia, SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms. ...more on Wikipedia about "Spinocerebellar ataxia"
TAR Syndrome (Thrombocytopenia and Absent Radius) is a rare genetic disorder which is characterised by the absence of the radius bone in the forearm, and a dramatically reduced platelet count. Platelets are the clotting agent in blood. A lowered count leads to bruising, and at worst, life-threatening haemorrhage. For most people with TAR, platelet counts improve as they grow out of childhood. ...more on Wikipedia about "TAR syndrome"
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