brachydactyly-elbow wrist dysplasia syndrome
Findings
No curated finding names brachydactyly-elbow wrist dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0008520), 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.
- Abnormal distal phalanx morphology of fingerHPOHP:0009832
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormal humerus morphologyHPOHP:0031095
- Very frequent (80% to 99% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
Genes
2 genes
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.
Where it sits
Other names
2 names
Resolves to: brachydactyly-elbow wrist dysplasia syndrome
- Also called
- brachydactyly-joint dysplasia syndromeLiebenberg syndrome