Neurology · Neurology / Pediatric neurology; Neurogenetics
Aicardi syndrome
also: Aicardi's syndrome
Rare neurodevelopmental disorder in females with agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms.
- 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
- Alternative names & eponyms
- Aicardi's syndrome
- Note
- Gene not identified; verify
Etiology & mechanism
Presumed X-linked dominant, lethal in males; causative gene not identified.
Gene(s) involved (0)
No gene recorded for this syndrome.
Symptoms & signs (5)
In plain terms, someone with Aicardi syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Bannayan–Riley–Ruvalcaba syndrome
developmental delay
1 shared
Brain–lung–thyroid syndrome
developmental delay
1 shared
Cardio-facio-cutaneous syndrome
developmental delay
1 shared
Chanarin–Dorfman syndrome
developmental delay
1 shared
Cobalamin C syndrome
developmental delay
1 shared
Cockayne syndrome
developmental delay
1 shared
Cutis laxa syndrome
developmental delay
1 shared
Dandy–Walker malformation
developmental delay
1 shared
Fetal hydantoin syndrome
developmental delay
1 shared
Fetal valproate syndrome
developmental delay
Shares genes with
None.
Loading…
Loading…