/acrocallosal syndrome

acrocallosal syndrome

Rare Disease

MONDO:0008708

Also Known As

ACLSACSSchinzel acrocallosal syndromeSchinzel syndrome 1acrocallosal syndromeJoubert syndrome 12Joubert syndrome 12/15, digenicabsence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactylyacrocallosal syndrome, Schinzel typehallux Duplication, postaxial polydactyly, and absence of corpus callosum

Definition

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.