SALL4-related disorders include a spectrum of phenotypes including Duane radial ray syndrome (DRRS), acro-renal-ocular syndrome (AROS), and rarely Holt-Oram syndrome. DRRS is characterized by Duane anomaly and radial ray malformations. AROS is characterized by radial ray malformations, renal abnormalities, and ocular abnormalities such as Duane anomaly. Some individuals may have sensorineural hearing loss. SALL4-related disorders are inherited in an autosomal dominant manner and are 95% penetrant depending on the mutation.
This laboratory performs Sanger sequencing of the SALL4 gene.