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otospondylomegaepiphyseal dysplasia, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

otospondylomegaepiphyseal dysplasia, autosomal recessive

MONDO:0044206

Also known as:Nance-Insley syndromeNance-Sweeney chondrodysplasiaOSMED

Overview

GeneticsAutosomal recessive · COL11A2 (chr 6)

OnsetCHILDHOOD

ResearchLimited published research (1 article)

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 always present findings: Anteverted nares, Short stature, Short 5th metacarpal, and Excessive inward curve of the lower back (lumbar hyperlordosis) and others. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	10	Enlarged joints, Excessive inward curve of the lower back (lumbar hyperlordosis), Prominent interphalangeal joints

Genetic Landscape

COL11A2 function has not been fully characterized.

Otospondylomegaepiphyseal dysplasia, autosomal recessive is associated with mutations in the COL11A2 gene on chromosome 6.

Diagnosis

Genetic testing for COL11A2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features.

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 otospondylomegaepiphyseal dysplasia, autosomal recessive.

1 publication has been identified in PubMed for otospondylomegaepiphyseal dysplasia, autosomal recessive. Research spans Case Report / Case Series (100%).

Recent Publications

Kim JB (2025). [PMID: 40278527](https://pubmed.ncbi.nlm.nih.gov/40278527/). *Pediatr Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:215150

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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otospondylomegaepiphyseal dysplasia, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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