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brachydactyly type A2 (BDA2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type A2

MONDO:0007216

Also known as:BDA2Mohr-Wriedt type brachydactylybrachydactyly, Mohr-Wriedt type

Overview

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.

GeneticsAutosomal dominant · 3 genes (BMP2, BMPR1B, GDF5)

ResearchLimited published research (3 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: Short hallux, Short middle phalanx of the 5th finger, 2-3 toe syndactyly, and Triangular shaped middle phalanx of the 5th finger and 10 more.

Organ System	Phenotype Count	Example Features
Arms and legs	11	Short middle phalanx of the 5th finger, 2-3 toe syndactyly, Triangular shaped middle phalanx of the 5th 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.

BMP2

BMP2 encodes bone morphogenetic protein 2 (396 aa). Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis. Induces cartilage and bone formation. Highest expression in Lung (24.1 TPM) and Thyroid (18.3 TPM).

Brachydactyly type A2 is associated with mutations in the BMP2 gene on chromosome 20.

The BMP2 protein participates in BMP2:BMP type II receptor:Phospho-BMP type I receptor:I-SMAD pathway.

BMP2 is classified as a druggable target (Cell Surface, Druggable Genome, Growth Factor, and Transcription Factor categories) with score 26.1.

BMPR1B

BMPR1B encodes bone morphogenetic protein receptor type 1B (502 aa). On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Highest expression in Nerve Tibial (19.1 TPM) and Prostate (13.7 TPM).

Brachydactyly type A2 is associated with mutations in the BMPR1B gene on chromosome 4.

Diagnosis

Genetic testing for BMP2, BMPR1B, GDF5 is available. Testing is considered confirmatory for diagnosis.

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 A2.

3 publications have been identified in PubMed for brachydactyly type A2. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

Liao J (2026). [PMID: 41530114](https://pubmed.ncbi.nlm.nih.gov/41530114/). *Bone Res*. [Review / Meta-Analysis]
Stavrén-Eriksson E (2025). [PMID: 39970956](https://pubmed.ncbi.nlm.nih.gov/39970956/). *Clin Genet*. [Basic Science / Preclinical]
Songkoomkrong S (2024). [PMID: 39488645](https://pubmed.ncbi.nlm.nih.gov/39488645/). *Sci Rep*. [Basic Science / Preclinical]

Data assembled from 6 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:112600

Orphanet

European rare disease database

Orphanet:93396

GARD

Genetic and Rare Diseases Info Center

GARD:979

Questions for Your Care Team

→Should I pursue genetic testing for the associated genes, 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 A2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

BMP2

BMPR1B

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

GDF5