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camptobrachydactyly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

camptobrachydactyly

MONDO:0007249

Also known as:short foot/brachydactyly of toes, camptodactyly, brachydactyly

Overview

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.

GeneticsAutosomal dominant

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Brachydactyly, Hand polydactyly, Urinary incontinence, and Septate vagina and 3 more.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Hand polydactyly, Congenital finger flexion contractures, Short toe
Kidneys and urinary system

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:114150

Orphanet

European rare disease database

Orphanet:1319

GARD

Genetic and Rare Diseases Info Center

GARD:1062

Questions for Your Care Team

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camptobrachydactyly

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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