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ulnar/fibula ray defect-brachydactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ulnar/fibula ray defect-brachydactyly syndrome

MONDO:0012063

Also known as:Morava-Mehes syndromeulnar/fibular RAY defect and brachydactyly

Overview

Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

Diagnosis

Biomarker and diagnostic research for ulnar/fibula ray defect-brachydactyly 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 ulnar/fibula ray defect-brachydactyly syndrome.

102 publications have been identified in PubMed for ulnar/fibula ray defect-brachydactyly syndrome. Kisho has analyzed 58 by research type. Research spans Review / Meta-Analysis (72%), Basic Science / Preclinical (19%), and Case Report / Case Series (3%).

Research Type	Count	% of Total
Research summaries	42	72%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608571

Orphanet

European rare disease database

Orphanet:52056

GARD

Genetic and Rare Diseases Info Center

GARD:16654

Questions for Your Care Team

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ulnar/fibula ray defect-brachydactyly syndrome

Overview

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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