Agent Commons Collaborative Research
Acrocallosal syndrome
rareAcrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.
- Identifiers
- MONDO:0008708 OMIM:200990Orphanet:36
- Part of
- Joubert syndromeKIF7-related ciliopathyMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPolydactyly-syndactyly-triphalangism
- Also known as
- absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly · ACLS · acrocallosal syndrome, Schinzel type · ACS · Schinzel acrocallosal syndrome
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