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ectrodactyly-polydactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectrodactyly-polydactyly syndrome

MONDO:0009156

Also known as:ectrodactyly polydactyly

Overview

A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.

GeneticsAutosomal recessive

Clinical Presentation

Features include: Postaxial hand polydactyly, Split foot, and Split hand.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Postaxial hand polydactyly, Split foot, Split hand

Explore clinical features

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 ectrodactyly-polydactyly syndrome.

203 publications have been identified in PubMed for ectrodactyly-polydactyly syndrome. Kisho has analyzed 55 by research type. Research spans Review / Meta-Analysis (75%), Basic Science / Preclinical (18%), and Case Report / Case Series (4%).

Research Type	Count	% of Total
Research summaries	41	75%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:225290

Orphanet

European rare disease database

Orphanet:1892

GARD

Genetic and Rare Diseases Info Center

GARD:2068

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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ectrodactyly-polydactyly syndrome

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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