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polydactyly of a triphalangeal thumb (PPD2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polydactyly of a triphalangeal thumb

MONDO:0008270

Also known as:PPD2polydactyly, preaxial type 2polydactyly, preaxial type II

Overview

A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.

GeneticsAutosomal dominant

ResearchLimited published research (6 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 very common findings: Preaxial hand polydactyly, Duplication of thumb phalanx, and Opposable triphalangeal thumb; and common findings: Postaxial hand polydactyly, Duplication of phalanx of hallux, Preaxial foot polydactyly, and Postaxial foot polydactyly and others. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Preaxial hand polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly

Prognosis

Phenotype severity distribution: 3 very common features, 5 common features.

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 polydactyly of a triphalangeal thumb.

6 publications have been identified in PubMed for polydactyly of a triphalangeal thumb. Research spans Case Report / Case Series (67%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (17%).

Recent Publications

Liu X (2026). [PMID: 41764505](https://pubmed.ncbi.nlm.nih.gov/41764505/). *Journal of cardiothoracic surgery*. [Case Report / Case Series]
Shimada K (2025). [PMID: 40497261](https://pubmed.ncbi.nlm.nih.gov/40497261/). *Journal of hand surgery global online*. [Case Report / Case Series]
Kim JK (2025). [PMID: 39846166](https://pubmed.ncbi.nlm.nih.gov/39846166/). *The Journal of hand surgery, European volume*. [Epidemiology / Natural History]
Zepeda-Olmos PM (2024). [PMID: 39273297](https://pubmed.ncbi.nlm.nih.gov/39273297/). *International journal of molecular sciences*. [Case Report / Case Series]
Ilhan O (2024). [PMID: 38721582](https://pubmed.ncbi.nlm.nih.gov/38721582/). *Journal of pediatric genetics*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:174500

Orphanet

European rare disease database

Orphanet:93336

GARD

Genetic and Rare Diseases Info Center

GARD:5289

Questions for Your Care Team

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polydactyly of a triphalangeal thumb

Overview

Clinical Presentation

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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