autosomaal recessief acrocallosaal syndroom (aandoening)
autosomaal recessief acrocallosaal syndroom
autosomaal recessief ACS
Acrocallosal syndrome
A polymalformation syndrome with main features of agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Craniofacial anomalies include macrocephaly with protruding forehead and occiput and hypertelorism. Distal anomalies of limbs include preaxial or postaxial polydactyly or polysyndactyly of toes and/or hands. The large majority of patients have intellectual deficit that is severe in 80% of cases. Mutations of the kinesin KIF7 (15q26.1) and the transcriptional activator GLI3 (7p14.1) genes are responsible for the disease. An autosomal recessive disease.
Associated morphologyagenesie
Finding sitegeheel corpus callosum
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified