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split hand-foot malformation 6 (SHFM6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

split hand-foot malformation 6

MONDO:0009157

Also known as:SHFM6WNT10B split hand-foot malformationsplit hand-foot malformation caused by mutation in WNT10B

Overview

Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.

GeneticsAutosomal recessive · WNT10B (chr 12)

ResearchLimited published research (7 articles)

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: Toe syndactyly, Foot oligodactyly, Split foot, and Finger syndactyly and 2 more.

Organ System	Phenotype Count	Example Features
Arms and legs	6	Toe syndactyly, Foot oligodactyly, Split foot

Explore clinical features

Genetic Landscape

WNT10B function has not been fully characterized.

Split hand-foot malformation 6 is associated with mutations in the WNT10B gene on chromosome 12.

Diagnosis

Genetic testing for WNT10B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for split hand-foot malformation 6 has been reported in the published literature.

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 split hand-foot malformation 6.

7 publications have been identified in PubMed for split hand-foot malformation 6. Research spans Basic Science / Preclinical (43%), Diagnostic / Biomarker (29%), and Case Report / Case Series (29%).

Recent Publications

Long JY (2026). [PMID: 42110406](https://pubmed.ncbi.nlm.nih.gov/42110406/). *Front Med (Lausanne)*. [Basic Science / Preclinical]
Hassan HA (2026). [PMID: 41760400](https://pubmed.ncbi.nlm.nih.gov/41760400/). *Birth Defects Res*. [Case Report / Case Series]
Pozojevic J (2025). [PMID: 39825730](https://pubmed.ncbi.nlm.nih.gov/39825730/). *Clin Genet*. [Case Report / Case Series]
Ege T (2025). [PMID: 41169613](https://pubmed.ncbi.nlm.nih.gov/41169613/). *Front Mol Biosci*. [Basic Science / Preclinical]
Zhuang J (2025). [PMID: 39910461](https://pubmed.ncbi.nlm.nih.gov/39910461/). *BMC Genomics*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:225300

GARD

Genetic and Rare Diseases Info Center

GARD:15166

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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split hand-foot malformation 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team