humeroradial synostosis
Findings
No curated finding names humeroradial synostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.
Definition from the Mondo Disease Ontology (MONDO:0007737), read 2026-09-29. CC BY 4.0.
Features
11 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.
- Elbow ankylosisHPOHP:0003070
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- Elbow dislocationHPOHP:0003042
- Frequent (30% to 79% of cases)
- Abnormality of the wristHPOHP:0003019
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia affecting the eyeHPOHP:0008056
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the thumbHPOHP:0009601
- Occasional (5% to 29% of cases)
- Chorioretinal coloboma
Where it sits
- A kind of
Other names
2 names
Resolves to: humeroradial synostosis
- Also called
- humero-radial fusionhumeroradial synostosis (disease)