Duane-radial ray syndrome

Last revised by Jeremy Jones on 12 Mar 2023

Duane-radial ray syndrome, also known as the Okihiro syndrome, is a rare an autosomal dominant condition characterized by radial ray defects and Duane syndrome (a form of strabismus with partial horizontal gaze palsy).

Pathology

Duane-radial ray syndrome is caused by a pathogenic mutation to SALL4, which has an autosomal dominant pattern of inheritance 2,4.

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