**The cause of Aicardi syndrome is unknown, but researchers suspect a new genetic change on the X chromosome.**
The responsible gene has not been identified, and nearly all cases occur without a family history. The condition primarily affects girls and involves differences in brain and eye development, often with seizures beginning in infancy. You need a specialist evaluation to understand whether your child's findings fit this condition. If your child has Aicardi syndrome, keeping a seizure log and attending neurology and eye appointments can help guide care.
How Aicardi syndrome is managed
Common questions
What causes Aicardi syndrome?
Aicardi syndrome has no confirmed cause. Researchers suspect a new change in a gene on the X chromosome, but the responsible gene has not been identified. Nearly all cases occur without a family history, and the condition primarily affects girls. It can involve a partly or completely missing connection between the brain's two halves, changes at the back of the eyes, and seizures in infancy. If your child has these findings, a pediatric neurologist can assess the diagnosis, and a genetics specialist can discuss what is known about risks in future pregnancies.