microphthalmia, syndromic type 8

microphthalmia, syndromic type 8

A very rare congenital syndrome (OMIM:601349) characterised by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and possibly mental retardation.

Molecular pathology
Caused by defects of SNX3, which encodes a phosphoinositide-binding protein required for multivesicular body formation and protein trafficking between cellular compartments.