Schinzel syndrome: acro-callosal type

(MIM 200990)

Polymalformative syndrome probably transmitted on an autosomal recessive mode, which combines: mental retardation, polydactyly, and hypertelorism. Agenesis of the corpus callosum and arachnoid cysts are found in 1/3 of cases. Sometimes: macrocephaly with prominent forehead and occipital bump, similar to the Greig syndrome phenotype.


Anesthetic implications:

mental retardation.


Updated: September 2018