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split hand-foot malformation 2 (SHFM2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

split hand-foot malformation 2

MONDO:0010736

Also known as:SHFM2split hand-foot malformation type 2split hand/foot malformation 2

Overview

A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.

GeneticsX-linked

ResearchLimited published research (6 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: Split foot, Short metacarpal, Finger syndactyly, and Split hand and 1 more.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Split foot, Finger syndactyly, Split hand

Explore clinical 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.

No clinical trials have been registered for split hand-foot malformation 2.

6 publications have been identified in PubMed for split hand-foot malformation 2. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Recent Publications

Kenis V (2026). [PMID: 41752826](https://pubmed.ncbi.nlm.nih.gov/41752826/). *Life (Basel, Switzerland)*. [Case Report / Case Series]
Wu S (2026). [PMID: 41596573](https://pubmed.ncbi.nlm.nih.gov/41596573/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Hassan HA (2026). [PMID: 41760400](https://pubmed.ncbi.nlm.nih.gov/41760400/). *Birth defects research*. [Case Report / Case Series]
Carter TC (2025). [PMID: 40304391](https://pubmed.ncbi.nlm.nih.gov/40304391/). *Birth defects research*. [Basic Science / Preclinical]
Kim JB (2025). [PMID: 40278527](https://pubmed.ncbi.nlm.nih.gov/40278527/). *Pediatric reports*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:313350

GARD

Genetic and Rare Diseases Info Center

GARD:15308

Questions for Your Care Team

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split hand-foot malformation 2

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team