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preaxial polydactyly of fingers - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

preaxial polydactyly of fingers

MONDO:0017425

Also known as:preaxial polydactyly of hand

Overview

Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.

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 preaxial polydactyly of fingers.

28 publications have been identified in PubMed for preaxial polydactyly of fingers. Research spans Case Report / Case Series (50%), Gene Therapy / Novel Therapeutics (18%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	14	50%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:294939

GARD

Genetic and Rare Diseases Info Center

GARD:12767

Questions for Your Care Team

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preaxial polydactyly of fingers

Overview

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications