Aicardi syndrome is a rare genetic disorder.

Typical characteristics are

• Malformation of the brain: so-called corpus callosum agenesis (the connecting piece between the two halves of the brain is completely or partially missing).
• Epileptic seizures (usually already in infancy, often difficult to treat).
• Eye abnormalities (e.g. typical retinal changes called "chorioretinal lacunae").
• Developmental delays, muscle stiffness, curvature of the spine (scoliosis) or problems with vision and body control are also common.

Cause:
The exact genetic cause is not yet fully understood. A mutation on the X chromosome is suspected. As boys only have one X chromosome, the syndrome is not compatible with life in boys in most cases - which is why almost exclusively girls are affected.