Aicardi syndrome

Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47, XXY cases).

Note: Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named after Jean Aicardi (see below). 

The typical presentation in infancy is with a triad of:

Characteristic malformations affect the brain, spine and eyes and include:

First described in 1961 by Jean Francois Marie Aicardi (1926-2015), a French neuropaediatrician 2.

Article information

rID: 5377
Section: Syndromes
Synonyms or Alternate Spellings:
  • Aicardi's syndrome

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Cases and figures

  • Case 1: showing agenesis of corpus callosum
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  • Case 1: showing grey matter heterotopia
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  • Case 2
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  • Case 3
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