Aicardi Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Aicardi Syndrome 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

  • Agenesis of Corpus Callosum With Chorioretinitis Abnormality
  • Agenesis of Corpus Callosum With Infantile Spasms And Ocular Anomalies
  • Callosal Agenesis and Ocular Abnormalities
  • Chorioretinal Anomalies with ACC
  • Corpus Callosum, Agenesis of and Chorioretinal Abnormality

Disorder Subdivisions

  • None

General Discussion

Aicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that connects the right half of the brain with the left half of the brain (corpus callosum) does not develop normally. Chorioretinal lacunae are small holes in the retina (back part of the eye). These are only visible to a doctor using a device to look into the back of the eye. It is very unusual to have Aicardi syndrome without having chorioretinal lacunae. The seizures can be of different types. Infants with Aicardi syndrome usually have a type of seizures known as "infantile spasms". These are single jerks of the whole body. They may happen many times a day. Infants are usually awake during infantile spasms. These look different from the more common type of seizures known as "generalized tonic-clonic" seizures. Generalized tonic-clonic seizures are rhythmic jerking of arms and legs. People often black out during this type of seizure. Children with Aicardi syndrome usually grow out of infantile spasms and then have generalized tonic-clonic seizures. Other parts of the brain also do not develop normally. These brain malformations cause frequent seizures and mental retardation.

Resources

Aicardi Syndrome Newsletter, Inc.
1510 Polo Fields Ct
Louisville, KY 40245
USA
Tel: (502)244-9152
Email: AICNews@aol.com
Internet: http://www.aicardisyndrome.org/site/node/3

National Association for Visually Handicapped
22 West 21st Street
New York, NY 10010
USA
Tel: (212)889-3141
Fax: (212)727-2931
Email: staff@navh.org
Internet: http://www.navh.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

Blind Children's Fund
311 W. Broadway
Suite 1
Mt. Pleasant, MI 48858
Tel: (989)779-9966
Fax: (989)779-0015
Email: bcf@blindchildrensfund.org
Internet: http://www.blindchildrensfund.org

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Aicardi Syndrome Awareness and Support Group
29 Delavan Avenue
Toronto
Ontario, M5P 1T2
Canada
Tel: (416) 481-4095
Email: asasn@sympatico.ca
Internet: http://www.aicardisyndrome.org/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Aicardi Syndrome Foundation
PO Box 3202
St. Charles, IL 60174
Tel: (800)374-8518
Email: foundation@aicardisyndrome.org
Internet: http://www.aicardisyndrome.org/site/node/16

For a Complete Report

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

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