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omodysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

omodysplasia

MONDO:0017136

Overview

Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.

ResearchLimited published research (3 articles)

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 omodysplasia.

3 publications have been identified in PubMed for omodysplasia. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Jurk S (2026). [PMID: 41022130](https://pubmed.ncbi.nlm.nih.gov/41022130/). *Z Geburtshilfe Neonatol*. [Case Report / Case Series]
Das S (2024). [PMID: 39262525](https://pubmed.ncbi.nlm.nih.gov/39262525/). *Cureus*. [Case Report / Case Series]
Ouidja MO (2024). [PMID: 39630030](https://pubmed.ncbi.nlm.nih.gov/39630030/). *Essays Biochem*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 6:27 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2733

GARD

Genetic and Rare Diseases Info Center

GARD:16608

Questions for Your Care Team

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omodysplasia

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team