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camptodactyly of fingers - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

camptodactyly of fingers

MONDO:0007250

Also known as:CAMPD1camptodactyly 1camptodactyly and knuckle pads

Overview

Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.

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 always present findings: Camptodactyly of finger. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	1	Camptodactyly of finger
Kidneys and urinary system

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for camptodactyly of fingers.

15 publications have been identified in PubMed for camptodactyly of fingers. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	6	43%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:114200

Orphanet

European rare disease database

Orphanet:295016

GARD

Genetic and Rare Diseases Info Center

GARD:9448

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

camptodactyly of fingers

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

camptodactyly of fingers

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications