camptobrachydactyly
Findings
No curated finding names camptobrachydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.
Definition from the Mondo Disease Ontology (MONDO:0007249), read 2026-09-29. CC BY 4.0.
Features
9 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.
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
- Septate vaginaHPOHP:0001153
- Frequent (30% to 79% of cases)
- Toe syndactylyHPOHP:0001770
- Frequent (30% to 79% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Frequent (30% to 79% of cases)
- Abnormal fingernail morphology
Where it sits
- A kind of