Aicardi Syndrome

Overview

Type of disease: Rare conditions

Aicardi syndrome is an extremely rare genetic condition found almost exclusively in females. The three main characteristics seen in individuals with Aicardi syndrome include absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis of the corpus callosum), small holes in the light-sensitive tissue at the back of the eye known as the retina (chorioretinal lacunae), and seizures beginning in infancy (infantile spasms) that may progress to recurrent seizures (epilepsy). Most people with Aicardi syndrome also have developmental delays and intellectual disabilities.

In addition to the main features associated with Aicardi syndrome, some individuals may also have distinctive facial features that include a shorter philtrum (area between the upper lip and the nose), a flat nose, large ears, and sparse eyebrows. Other features of Aicardi syndrome may include a small head (microcephaly), decreased muscle tone (axial hypotonia), missing eyes (anophthalmia), gastrointestinal difficulties (diarrhea, constipation, reflux and feeding difficulties), small hands, and curvature of the spine (scoliosis). The severity of Aicardi syndrome varies, so not every person with Aicardi syndrome will have all of these features.

The exact genetic cause of Aicardi syndrome is not known. Because it almost always occurs in females, geneticists believe Aicardi syndrome is caused by a mutation within an undiscovered gene located on the X chromosome. Nearly all known cases of Aicardi syndrome occur randomly in individuals (sporadic). Although there is not a cure for Aicardi syndrome, there are various resources to help manage the symptoms associated with the condition. Talking with your doctor and visiting support group websites serve as good resources for additional information.

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