Aicardi syndrome

Overview

What is Aicardi syndrome?

Aicardi syndrome is a genetic condition that occurs almost exclusively in females. Most commonly, those with Aicardi syndrome have a missing or an underdeveloped corpus callosum, the tissue that separates the left and right sides of the brain. An underdeveloped or missing corpus callosum can cause infantile spasms which are seizures that happen during the first few months of life and intellectual disabilities. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/aicardi-syndrome-100039/overview/249 • DATE UPDATED: 2016-06-17

References

http://www.omim.org/entry/304050#31

http://www.ncbi.nlm.nih.gov/books/NBK1381/

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