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Aniridia Cerebellar Ataxia Mental Deficiency
Important
It is possible that the main title of the report Aniridia Cerebellar Ataxia Mental Deficiencyis not the name you expected.
Synonyms
- Gillespie Syndrome
- Aniridia-Cerebellar Ataxia-Mental Retardation
- Aniridia, Partial-Cerebellar Ataxia-Mental Retardation
- Aniridia, Partial-Cerebellar Ataxia-Oligophrenia
Disorder Subdivisions
- None
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.
Resources
National Association for Visually Handicapped
22 West 21st Street
New York
NY
10010
USA
Tel: (212)889-3141
Fax: (212)727-2931
staff@navh.org
http://www.navh.org
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown
MA
02472
Tel: (617)972-7441
Fax: (617)972-7444
800: (800)562-6265
napvi@perkins.org
http://www.napvi.org
National Eye Research Foundation
910 Skokie Boulevard
Suite 207A
Northbrook
IL
60062
Tel: (847)564-4652
Fax: (847)564-0807
800: (800)621-2258
nerf1955@aol.com
http://www.nerf.org
Glaucoma Research Foundation
490 Post Street
Suite 1427
San Francisco
CA
94102
Tel: (415)986-3162
Fax: (415)986-3763
800: (800)826-6693
info@glaucoma.org
http://www.glaucoma.org
NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda
MD
20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
2020@nei.nih.gov
http://www.nei.nih.gov/
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
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
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 8/8/2007
Copyright 1996, 1998, 2005, 2007 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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