Conditions / Syndrome
Duane-radial ray syndrome
info · Syndrome · ICD-10: Q87.8
A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.
Signs and symptoms
- Shoulder dislocation
- Hypoplasia of the radius
- Hypoplasia of the ulna
- Microphthalmia
- Duane anomaly
- Small thenar eminence
- Anal stenosis
- Epicanthus
- Anal atresia
- Strabismus
Also known as: DR syndrome; Duane anomaly with radial ray abnormalities and deafness; Okihiro syndrome; acrorenocular syndrome