What is Aicardi Syndrome?


Aicardi syndrome is a rare congenital disorder that causes malformations affecting the brain, eyes and other body parts. Children typically experience lifelong challenges with disabilities, seizures and other medical issues.

Aicardi syndrome is a rare disorder that’s present at birth (congenital). It causes malformations in the brain, eyes and other parts of the body. It leads to lifelong difficulties, including intellectual disabilities and developmental delay.

How rare is it?

Aicardi syndrome occurs in 1 out of every 100,000 live births. There are approximately 1,000 cases in the US and roughly 4,000 worldwide.

How does Aicardi syndrome affect the body?

The condition has three common issues:

  • Agenesis of the corpus callosum: Abnormalities in the structure connecting the brain’s left and right sides.
  • Eye issues: Holes in the back of the eye (coloboma) or patches of clear tissue (choroidal lacunae).
  • Seizures: Difficult-to-treat episodes of irregular electrical activity in the brain.

It’s possible to have Aicardi syndrome and not have all three issues. Many children experience additional symptoms and delays.

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