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synpolydactyly type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

synpolydactyly type 1

MONDO:0008513

Also known as:HOXD13 non-syndromic synpolydactylySD2, Vordingborg typeSD2a

Overview

Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.

GeneticsAutosomal dominant · HOXD13 (chr 2)

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 common findings: 4-5 toe syndactyly; and sometimes findings: 3-4 finger cutaneous syndactyly and Preaxial foot polydactyly. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	10	3-4 finger cutaneous syndactyly, Short middle phalanx of the 5th finger, 4-5 toe syndactyly

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.

HOXD13 encodes homeobox D13 (343 aa). Sequence-specific transcription factor that binds gene promoters and activates their transcription. Highest expression in Colon Sigmoid (34.0 TPM) and Vagina (31.9 TPM).

Synpolydactyly type 1 is associated with mutations in the HOXD13 gene on chromosome 2.

HOXD13 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 26.1.

Diagnosis

Genetic testing for HOXD13 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 common feature.

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 synpolydactyly type 1.

2 publications have been identified in PubMed for synpolydactyly type 1. Research spans Basic Science / Preclinical (100%).

Recent Publications

Chen X (2024). [PMID: 39472920](https://pubmed.ncbi.nlm.nih.gov/39472920/). *BMC Med Genomics*. [Basic Science / Preclinical]
Wang WC (2024). [PMID: 38907278](https://pubmed.ncbi.nlm.nih.gov/38907278/). *J Ovarian Res*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 8:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:186000

Orphanet

European rare disease database

Orphanet:295195

GARD

Genetic and Rare Diseases Info Center

GARD:17358

Questions for Your Care Team

→Should I pursue genetic testing for HOXD13, 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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synpolydactyly type 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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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