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syndactyly type 5 (SD5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndactyly type 5

MONDO:0008516

Also known as:SD5postaxial syndactyly with metacarpal synostosisSDTY5

Overview

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

GeneticsAutosomal dominant · HOXD13 (chr 2)

ResearchLimited published research (1 article)

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: Brachydactyly, Enlarged proximal interphalangeal joints, Joint contracture of the hand, and Camptodactyly of finger and 7 more.

Organ System	Phenotype Count	Example Features
Arms and legs	6	Joint contracture of the hand, Camptodactyly of finger, Short distal phalanx of finger

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).

Syndactyly type 5 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

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 syndactyly type 5.

1 publication has been identified in PubMed for syndactyly type 5. Research spans Review / Meta-Analysis (100%).

Recent Publications

Obstetrics And Gynecology Ultrasound Group Ultrasound Branch Of Chinese Medical Association (2025). [PMID: 40947404](https://pubmed.ncbi.nlm.nih.gov/40947404/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:186300

Orphanet

European rare disease database

Orphanet:93406

GARD

Genetic and Rare Diseases Info Center

GARD:5089

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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syndactyly type 5

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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