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tetramelic monodactyly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetramelic monodactyly

MONDO:0008544

Also known as:Sommer-Hines syndrometetramelic monodactyly with autosomal dominant inheritance

Overview

Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Hand monodactyly, Split foot, Split hand, and Foot monodactyly.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Hand monodactyly, Split foot, Split hand

Explore clinical features

Diagnosis

Biomarker and diagnostic research for tetramelic monodactyly has been reported in the published literature.

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 tetramelic monodactyly.

132 publications have been identified in PubMed for tetramelic monodactyly. Research spans Review / Meta-Analysis (69%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	91	69%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:187510

Orphanet

European rare disease database

Orphanet:2564

GARD

Genetic and Rare Diseases Info Center

GARD:3707

Questions for Your Care Team

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tetramelic monodactyly

Overview

Clinical Presentation

Explore clinical features

Diagnosis

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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