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

Rare Disease

otospondylomegaepiphyseal dysplasia

MONDO:0008975

Also known as:Nance-Insley syndromeNance-Sweeney chondrodysplasiaOSMED

Overview

An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OnsetCHILDHOOD

ResearchLimited published research (2 articles)

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 very common findings: Inner ear hearing loss (sensorineural hearing impairment), Anteverted nares, Abnormal joint morphology, and Abnormal vertebral morphology and others; and common findings: Cleft palate, Bifid uvula, Micrognathia, and Brachydactyly and others. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	12	Abnormal joint morphology, Abnormal vertebral morphology, Abnormal pelvis bone morphology

Prognosis

Phenotype severity distribution: 8 very common features, 10 common features.

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 otospondylomegaepiphyseal dysplasia.

2 publications have been identified in PubMed for otospondylomegaepiphyseal dysplasia. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Yoshino S (2026). [PMID: 41912496](https://pubmed.ncbi.nlm.nih.gov/41912496/). *Bone Res*. [Review / Meta-Analysis]
Kim JB (2025). [PMID: 40278527](https://pubmed.ncbi.nlm.nih.gov/40278527/). *Pediatr Rep*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1427

GARD

Genetic and Rare Diseases Info Center

GARD:4130

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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otospondylomegaepiphyseal dysplasia

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

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