Aicardi syndrome

Not be confused with Aicardi-Goutières syndrome

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.