Duane-radial ray syndrome
Duane-radial ray syndrome
Definition
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 acro-renal-ocular syndrome, DR syndrome, DRRS, Duane anomaly with radial ray abnormalities and deafness, Duane-radial ray syndrome, Okihiro syndrome — per MONDO