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

Rare Disease

polydactyly-myopia syndrome

MONDO:0008268

Also known as:Czeizel-Brooser syndromePMSpolydactyly, postaxial, with progressive myopia

Overview

Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Postaxial hand polydactyly and Myopia.

Organ System	Phenotype Count	Example Features
Arms and legs	1	Postaxial hand polydactyly

Explore clinical features

Diagnosis

Biomarker and diagnostic research for polydactyly-myopia syndrome 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 polydactyly-myopia syndrome.

123 publications have been identified in PubMed for polydactyly-myopia syndrome. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (15%), and Case Report / Case Series (5%).

Research Type	Count	% of Total
Research summaries	87	71%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:174310

Orphanet

European rare disease database

Orphanet:2917

GARD

Genetic and Rare Diseases Info Center

GARD:4413

Questions for Your Care Team

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polydactyly-myopia syndrome

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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