(MIM 607323)

(Duane-Radial ray syndrome)

Rare. Autosomal dominant transmission with incomplete penetrance and variable expression of a mutation of the SALL4 gene on 20q13.13q13.2. Association of Duane syndrome (see this term) with a malformation of the radial side of the upper limb (absent thumb, thumb duplication, absence of radius) and sensorineural hearing loss. . Other anomalies are sometimes present: ASD, clubfoot, anal stenosis, vertebral malformations.

The phenotype is close to Holt-Oram (TBX5 gene) and Townes-Brocks (SALL1 gene) syndromes.

Anesthetic implications:

cardiac ultrasound, difficult peripheral venous access .

Updated: November 2018