Wikipedia Precis

This revision: 9th May 2013 .
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Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms.

Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter syndrome.

Confirmation of this theory awaits the discovery of the gene which causes Aicardi syndrome. Symptoms typically appear before a baby reaches about 5 months of age.[citation needed]

Worldwide prevalence of Aicardi Syndrome is estimated at several thousand, with approximately 900 cases reported in the United States.[1]

Almost all reported cases of Aicardi syndrome have been in females.

Useful Links

Aicardi Syndrome Foundation

A US support group run by parents including links, research summaries, a chatroom and other forms of support for families of affected individuals.


Contact a Family, a UK Charity which provides support for rare disabilities.


Aicardi Syndrome reference page from the US National Institute of Neurological Disorders and Stroke.


Aicardi Syndrome reference pages at eMedicine.

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