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split hand-foot malformation 1 (SHFD1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

split hand-foot malformation 1

MONDO:0008464

Also known as:SHFD1SHFM1split hand-foot malformation type 1

Overview

Split-hand/foot malformation mapped to chromosome 7q21.3

GeneticsAutosomal dominant · DLX5 (chr 7)

ResearchLimited published research (5 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 very common findings: Split hand and Split foot; and common findings: Cleft palate, Hearing loss (hearing impairment), Finger aplasia, and Foot oligodactyly and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Split hand, Finger aplasia, Foot oligodactyly

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DLX5 encodes distal-less homeobox 5 (289 aa). Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Highest expression in Skin Sun Exposed Lower leg (34.7 TPM) and Skin Not Sun Exposed Suprapubic (30.0 TPM).

Split hand-foot malformation 1 is associated with mutations in the DLX5 gene on chromosome 7.

The DLX5 protein participates in Expression of DLX5 in the neural plate border, RUNX2 gene expression from distal (P1) promoter is inhibited by NKX3-2, MSX2 and RUNX2-P1, and stimulated by DLX5,(DLX6), and Embryonic ectoderm cell produces mammary stem cell pathways.

DLX5 is classified as a druggable target (Transcription Factor category) with score 8.7.

Diagnosis

Genetic testing for DLX5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 very common features, 7 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.

No clinical trials have been registered for split hand-foot malformation 1.

5 publications have been identified in PubMed for split hand-foot malformation 1. Research spans Case Report / Case Series (60%) and Basic Science / Preclinical (40%).

Recent Publications

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:183600

GARD

Genetic and Rare Diseases Info Center

GARD:7685

Questions for Your Care Team

→Should I pursue genetic testing for DLX5, 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?

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split hand-foot malformation 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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