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

Rare Disease

clubfoot

MONDO:0007342

Also known as:club footclubbed footcongenital clubfoot

Find Clinical TrialsTrials

Overview

The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.

GeneticsAutosomal dominant · PITX1 (chr 5)

OnsetCONGENITAL

Clinical Trials17 registered · 8 recruiting

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: Short stature; and very common findings: Bilateral talipes equinovarus. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Mirror image foot polydactyly, Preaxial foot polydactyly

Genetic Landscape

PITX1 function has not been fully characterized.

Clubfoot is associated with mutations in the PITX1 gene on chromosome 5.

Diagnosis

Genetic testing for PITX1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for clubfoot has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 11 common features.

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.

17 clinical trials registered, 8 recruiting. Interventions under study include procedural interventions, other interventions, medical devices, and drug therapy. Pipeline includes 1 PHASE4, 9 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07428902](https://clinicaltrials.gov/study/NCT07428902)

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:119800

Questions for Your Care Team

→Are any of the 17 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for PITX1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Research summaries	36	34%
Disease patterns and progression	32	30%
Clinical study results	19	18%
Testing and diagnosis research	6	6%
Patient case studies	6	6%
Laboratory research	6	6%
Other research	1	1%
New treatment approaches	1	1%

Kisho

clubfoot

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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clubfoot

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications