Aniridia Cerebellar Ataxia Mental Deficiency / Disease

Diseases & Conditions

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Aniridia Cerebellar Ataxia Mental Deficiency

Synonyms of Aniridia Cerebellar Ataxia Mental Deficiency

Aniridia-Cerebellar Ataxia-Mental Retardation
Aniridia, Partial-Cerebellar Ataxia-Mental Retardation
Aniridia, Partial-Cerebellar Ataxia-Oligophrenia
Gillespie Syndrome

Disorder Subdivisions

General Discussion
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.

Organizations related to Aniridia Cerebellar Ataxia Mental Deficiency

Glaucoma Research Foundation
490 Post Street
San Francisco CA 94102
Phone #: 415-986-3162
800 #: 800-826-6693
e-mail: [email protected]
Home page: http://www.glaucoma.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
NIH/National Eye Institute
Building 31 Rm 6A32
Bethesda MD 20892-2510
Phone #: 301-496-5248
800 #: --
e-mail: [email protected]
Home page: http://www.nei.nih.gov/
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown MA 02472
Phone #: 617-972-7441
800 #: 800-562-6265
e-mail: [email protected]
Home page: http://www.napvi.org
National Association for Visually Handicapped
22 West 21st Street
New York NY 10010
Phone #: 212-889-3141
800 #: --
e-mail: [email protected]
Home page: http://www.navh.org
National Eye Research Foundation
910 Skokie Boulevard
Northbrook IL 60062
Phone #: 847-564-4652
800 #: 800-621-2258
e-mail: [email protected]
Home page: http://www.nerf.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: [email protected]
Home page: http://www.ninds.nih.gov/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html