acrocallosal syndrome
MIM.200990
Schinzel acrocallosal syndrome
Definition: Autosomal recessive disease linked to 7p13.
Synopsis
macrocephaly
hypoplastic midface (midface hypoplasia)
dysplastic ears
hypertelorism
down-slanting palpebral fissures
optic/retinal abnormalities
nystagmus
polydactyly (pre-axial polydactyly or post-axial polydactyly)
bifid phalanges of thumbs
duplicated halluces (hallux duplication)
mental retardation
seizures
hypotonia
agenesis of the corpus callosum
See also
