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brachydactyly type A5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type A5

MONDO:0019678

Also known as:absent middle phalanges of digits 2-5 with nail dysplasiabrachydactyly type A5 nail dysplasiabrachydactyly with absence of middle phalanges and hypoplastic nails

Overview

Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.

ResearchLimited published research (2 articles)

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 A5.

2 publications have been identified in PubMed for brachydactyly type A5. Research spans Other (50%) and Review / Meta-Analysis (50%).

Recent Publications

Iturrate A (2025). [PMID: 41291844](https://pubmed.ncbi.nlm.nih.gov/41291844/). *Hum Genomics*. [Other]
Zhu S (2024). [PMID: 38956429](https://pubmed.ncbi.nlm.nih.gov/38956429/). *Cell Discov*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:112900

Orphanet

European rare disease database

Orphanet:93389

GARD

Genetic and Rare Diseases Info Center

GARD:982

Questions for Your Care Team

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brachydactyly type A5

Overview

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team