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National Organization for Rare Disorders, Inc.
- 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 chorioretinal abnormality
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 (maybe impossible) 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 or other types of seizures. Other parts of the brain also do not develop normally. These brain malformations cause frequent seizures and intellectual disability.
Aicardi Syndrome Newsletter, Inc.
P.O. Box 3202
St. Charles, IL 60174
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
111 E 59th St
New York, NY 10022-1202
1660 L Street, NW, Suite 301
Washington, DC 20036
Blind Children's Fund
6761 W. US 12
PO Box 363
Three Oaks, MI 49128
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Aicardi Syndrome Awareness and Support Group
29 Delavan Avenue
Ontario, M5P 1T2
Tel: (416) 481-4095
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Aicardi Syndrome Foundation
PO Box 3202
St. Charles, IL 60174
For a Complete Report
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Last Updated: 1/4/2012
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