symbrachydactyly of hands and feet
Findings
No curated finding names symbrachydactyly of hands and feet yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.
Definition from the Mondo Disease Ontology (MONDO:0015516), read 2026-09-29. CC BY 4.0.
Features
7 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.
- Abnormality of the humeroulnar jointHPOHP:0100745
- Very frequent (80% to 99% of cases)
- Abnormal humerus morphologyHPOHP:0031095
- Frequent (30% to 79% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the thumbHPOHP:0009601
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: symbrachydactyly of hands and feet
- Also called
- De Smet-Fabry-Fryns syndromefrints de Smet Fabry Fryns syndromesymbrachydactyly of the hand and foot