Duane-radial ray syndrome

A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

Also known as: DR syndrome, DRRS, Duane anomaly with radial ray abnormalities and deafness, Duane-radial ray syndrome, Okihiro syndrome, acro-renal-ocular syndrome, Duane anomaly with radial abnormalities and deafness

2 clinical trials for this condition and its sub-types, 1 tagged with Duane-radial ray syndrome itself.