Orphanet: Aicardi syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Aicardi syndrome

Disease definition

A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.


Classification level: Disorder
  • Synonym(s):
    • Agenesis of corpus callosum with chorioretinal abnormality
  • Prevalence: Unknown
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal
  • ICD-10: Q04.0
  • OMIM: 304050
  • UMLS: C0175713
  • MeSH: D058540
  • GARD: 5764
  • MedDRA: 10054935

Detailed information

Article for general public


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.