Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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: info@glaucoma.org
      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: mums@netnet.net
      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: 2020@nei.nih.gov
      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: napvi@perkins.org
      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: staff@navh.org
      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: nerf1955@aol.com
      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: braininfo@ninds.nih.gov
      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