Duker Weiss Siber syndrome

Overview

Duker-Weiss-Siber syndrome is characterized by the association of microphthalmos, microencephaly, intellectual deficit, agenesis of the corpus callosum, hypospadius and cryptorchidism. Ophthalmologic findings included, besides microphthalmos, a variable combination of corneal and uveal anomalies, cataract, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. It has been reported in four related males, one of whom had a female twin who died in utero at 15 weeks' gestation and showed none of the ocular abnormalities. The most likely hypothesis is recessive X-linked transmission. *Author: Orphanet (September 2005)