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familial clubfoot due to 17q23.1q23.2 microduplication - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial clubfoot due to 17q23.1q23.2 microduplication

MONDO:0013329

Also known as:hereditary clubfoot due to 17q23.1-q23.2 microduplicationchromosome 17q23.1-q23.2 DUPLICATION syndrome

Overview

17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

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 very common findings: Talipes equinovarus; and common findings: Short stature. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Small nail
Arms and legs

Prognosis

Phenotype severity distribution: 1 very common feature, 1 common feature.

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

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 familial clubfoot due to 17q23.1q23.2 microduplication.

1 publication has been identified in PubMed for familial clubfoot due to 17q23.1q23.2 microduplication. Research spans Review / Meta-Analysis (100%).

Recent Publications

Umar M (2025). [PMID: 40746736](https://pubmed.ncbi.nlm.nih.gov/40746736/). *Genes Dis*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613618

Orphanet

European rare disease database

Orphanet:238578

GARD

Genetic and Rare Diseases Info Center

GARD:17177

Questions for Your Care Team

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familial clubfoot due to 17q23.1q23.2 microduplication

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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