Important
It is possible that the main title of the report Aniridia Cerebellar Ataxia Mental Deficiency
is not the name you expected. Please check the synonyms listing to find
the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
- Gillespie Syndrome
- Aniridia-Cerebellar Ataxia-Mental Retardation
- Aniridia, Partial-Cerebellar Ataxia-Mental Retardation
- Aniridia, Partial-Cerebellar Ataxia-Oligophrenia
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: 2128893141
Fax: 2127272931
Email: staff@navh.org
Internet: 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
Tel: (800)562-6265
Email: napvi@perkins.org
Internet: http://www.napvi.org
National Eye Research Foundation
910 Skokie Boulevard
Suite 207A
Northbrook, IL 60062
Tel: (847)564-4652
Fax: (847)564-0807
Tel: (800)621-2258
Email: nerf1955@aol.com
Internet: http://www.nerf.org
Glaucoma Research Foundation
490 Post Street
Suite 1427
San Francisco, CA 94102
Tel: (415)986-3162
Fax: (415)986-3763
Tel: (800)826-6693
Email: info@glaucoma.org
Internet: http://www.glaucoma.org
NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
United States
Tel: 3014965248
Fax: 3014021065
Email: 2020@nei.nih.gov
Internet: 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
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. �(r) (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.
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