Aicardi syndrome

Aicardi syndrome is a rare syndrome characterized by a triad of agenesis or dysgenesis of corpus callosum, chorioretinal lacunae and seizures (infantile spasms). The condition manifests in early childhood (before five months of age).

Since Arcadi syndrome occurs almost exclusively in females (and males with Klinefelter syndrome), it has been hypothesized that it is caused by a mutation of a gene on X chromosome. However, no gene has been identified yet.