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split-hand/foot malformation with long bone deficiency 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

split-hand/foot malformation with long bone deficiency 1

MONDO:0007332

Also known as:SHFLD1SHFLDaplasia of tibia with ectrodactyly

Overview

GeneticsAutosomal dominant

ResearchLimited published research (2 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: Absent forearm, Short hallux, Hand monodactyly, and Aplasia of the 3rd finger and 6 more.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Hand monodactyly, Aplasia of the 3rd finger, Split foot

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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 with long bone deficiency 1.

2 publications have been identified in PubMed for split-hand/foot malformation with long bone deficiency 1. Research spans Case Report / Case Series (100%).

Recent Publications

Kim JB (2025). [PMID: 40278527](https://pubmed.ncbi.nlm.nih.gov/40278527/). *Pediatr Rep*. [Case Report / Case Series]
Deftereou TE (2024). [PMID: 39176338](https://pubmed.ncbi.nlm.nih.gov/39176338/). *Cureus*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:119100

GARD

Genetic and Rare Diseases Info Center

GARD:15050

Questions for Your Care Team

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split-hand/foot malformation with long bone deficiency 1

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