Aicardi syndrome

Also known as: Aicardi's syndrome

Rare neurodevelopmental disorder in females with agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms.

Medical specialty: Neurology
Subspecialty: Neurology / Pediatric neurology; Neurogenetics
Sex & age distribution: Male: affected, extremely rare (XXY or mosaic); Female: affected, nearly all; Children: yes, infancy
Gene(s) involved: None recorded

Etiology & mechanism

Presumed X-linked dominant, lethal in males; causative gene not identified.

Gene(s) involved (0)

No gene recorded.

Symptoms & signs (5)

chorioretinal lacunaecorpus callosum agenesisdevelopmental delayinfantile spasmsvertebral anomalies

Note

Gene not identified; verify

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.