Ataxia - telangiectasia

Definition:

A complex inherited disorder that affects many tissues and systems in the body, characterized by the presence of multiple symptoms such as telangiectasia ataxic gait, proneness to infection, and defective humoral/cellular immunity. Immunologic deficiencies also include an increased incidence of malignancies.

Causes, incidence, and risk factors:

Ataxia-telangiectasia is thought to be transmitted as an autosomal recessive trait. The long arm of chromosome 14 is abnormal in some patients. The most obvious symptoms of the disease are multiple telangiectasia that are easily visible in the white of the eye and certain skin areas such as the ear and nose, graying of the hair, and irregular pigmentation of the skin in areas exposed to sunlight.