Aniridia, cerebellar ataxia, and mental deficiency, also known as Gillespie syndrome, is an extremely rare inherited disorder that is characterized by the absence, in whole (aniridia) or in part (partial aniridia), of the colored portion (iris) of the eye; impaired coordination of voluntary movements due to underdevelopment (hypoplasia) of the brain’s cerebellum (cerebellar ataxia); and mental retardation. The condition usually affects both eyes (bilateral) but a few cases have been reported in which only one eye is affected. Some individuals with this syndrome also exhibit a delay in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation). ACAMD is thought to be inherited as an autosomal recessive genetic trait and is extremely rare, with only 20 to 30 cases reported in the medical literature.
Information on healthetreatment comes from people like you and me.
There isn’t much information on Aniridia Cerebellar Ataxia Mental Deficiency, but by creating an account, you’ll be one of the first to help others learn more, and start to feel better.
Most effective Aniridia Cerebellar Ataxia Mental Deficiency treatments reported by our members
No treatments have been listed
Most severe Aniridia Cerebellar Ataxia Mental Deficiency symptoms reported by our members
There have been no symptoms added by our members for this condition yet.