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postaxial tetramelic oligodactyly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

postaxial tetramelic oligodactyly

MONDO:0008298

Also known as:oligodactyly tetramelic postaxialpostaxial oligodactyly, tetramelic

Overview

Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.

GeneticsAutosomal dominant

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: Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, and Ectrodactyly. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Postaxial hand polydactyly, Postaxial foot polydactyly, Abnormal finger morphology

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Prognosis

Phenotype severity distribution: 4 very common features.

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

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:176240

Orphanet

European rare disease database

Orphanet:2730

GARD

Genetic and Rare Diseases Info Center

GARD:4065

Questions for Your Care Team

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postaxial tetramelic oligodactyly

Overview

Clinical Presentation

Explore clinical features

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team