Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

brachydactyly-syndactyly syndrome (BDSD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly-syndactyly syndrome

MONDO:0012544

Also known as:BDSDbrachydactyly-syndactyly, Zhao typebrachydactyly-syndactyly-oligodactyly syndrome

Overview

Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.

GeneticsHOXD13 (chr 2)

Clinical Presentation

Features include: Camptodactyly, Oligodactyly, Brachydactyly, and Short digit and 3 more.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Short digit, Finger syndactyly, Short phalanx of finger

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-syndactyly syndrome 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.

Biomarker and diagnostic research for brachydactyly-syndactyly syndrome has been reported in the published literature.

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 brachydactyly-syndactyly syndrome.

166 publications have been identified in PubMed for brachydactyly-syndactyly syndrome. Research spans Review / Meta-Analysis (55%), Basic Science / Preclinical (20%), and Case Report / Case Series (8%).

Research Type	Count	% of Total
Research summaries	91	55%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610713

Orphanet

European rare disease database

Orphanet:93409

GARD

Genetic and Rare Diseases Info Center

GARD:16821

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?

← Back to All Diseases

brachydactyly-syndactyly syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications