Aicardi Syndrome

Alternative names:

chorioretinal anomalies-corpus callosum agenesis-infantile spasms syndrome; corpus callosum agenesis-chorioretinopathy-infantile spasms syndrome; corpus callosum agenesis-ocular anomalies-salaam seizures syndrome.

Definition:

A congenital disorder characterized by infantile spasms (jerking), epileptic seizures, mental retardation, decreased muscle tone, and abnormalities of the eye.

Causes, incidence, and risk factors:

The specific cause of Aicardi syndrome is unknown at this time. Suspected causes include a genetic defect of the X-chromosome, an infection that the fetus develops before birth, or an environmental agent encountered in the womb. This syndrome appears only in females, because affected males die before birth.