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brachydactyly type A4 (BDA4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type A4

MONDO:0007218

Also known as:BDA4Brachymesophalangy II and VTemtamy type brachydactyly

Overview

Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.

GeneticsAutosomal dominant

OnsetCONGENITAL

ResearchLimited published research (4 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: Type A brachydactyly, Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, and Short middle phalanx of the 2nd finger and 2 more.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd finger, Aplasia of the middle phalanges of the toes

Diagnosis

Biomarker and diagnostic research for brachydactyly type A4 has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 A4.

4 publications have been identified in PubMed for brachydactyly type A4. Research spans Diagnostic / Biomarker (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Yang X (2025). [PMID: 40119734](https://pubmed.ncbi.nlm.nih.gov/40119734/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Wang X (2025). [PMID: 40589517](https://pubmed.ncbi.nlm.nih.gov/40589517/). *Frontiers in endocrinology*. [Diagnostic / Biomarker]
Iturrate A (2025). [PMID: 41291844](https://pubmed.ncbi.nlm.nih.gov/41291844/). *Human genomics*. [Epidemiology / Natural History]
Wang H (2024). [PMID: 38561387](https://pubmed.ncbi.nlm.nih.gov/38561387/). *Bone research*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:112800

Orphanet

European rare disease database

Orphanet:93394

GARD

Genetic and Rare Diseases Info Center

GARD:990

Questions for Your Care Team

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brachydactyly type A4

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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