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.
Read more about Aicardi Syndrome: History, Epidemiology, Genetics, Features, Diagnosis, Treatment, Prognosis
Other articles related to "aicardi syndrome, syndrome":
... However, almost all people reported with Aicardi syndrome to date have experienced developmental delay of a significant degree, typically resulting in moderate to profound mental retardation ... age range of the individuals reported with Aicardi syndrome is from birth to the mid 40s ... There is no cure for this syndrome ...
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