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brachydactyly type D (BDD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type D

MONDO:0007222

Also known as:BDDbrachydactyly, type Dstub thumb

Overview

A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.

GeneticsAutosomal dominant · HOXD13 (chr 2)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Broad distal phalanx of the hallux, Broad distal phalanx of the thumb, and Type D brachydactyly.

Explore clinical features

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).

Brachydactyly type D 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.

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 brachydactyly type D.

2 publications have been identified in PubMed for brachydactyly type D. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Mokhtari A (2026). [PMID: 40842263](https://pubmed.ncbi.nlm.nih.gov/40842263/). *Clin Genet*. [Basic Science / Preclinical]
Yang X (2025). [PMID: 40119734](https://pubmed.ncbi.nlm.nih.gov/40119734/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:113200

Orphanet

European rare disease database

Orphanet:93385

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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brachydactyly type D

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team