Duane-radial ray syndrome
Findings
No curated finding names Duane-radial ray syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011812), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
52 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hypoplasia of the radiusHPOHP:0002984
- 4 of 4 reported patients
- Hypoplasia of the ulnaHPOHP:0003022
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Shoulder dislocationHPOHP:0003834
- 5 of 5 reported patients
- Duane anomalyHPOHP:0009921
- 12 of 13 reported patients
- Small thenar eminenceHPOHP:0001245
- 9 of 10 reported patients
- Abnormal morphology of the radius
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SALL4HGNC:15924
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: Duane-radial ray syndrome
- Also called
- acro-renal-ocular syndromeDR syndromeDRRSDuane anomaly with radial ray abnormalities and deafnessOkihiro syndrome