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genochondromatosis type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

genochondromatosis type 1

MONDO:0019411

Overview

Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.

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 genochondromatosis type 1.

3 publications have been identified in PubMed for genochondromatosis type 1. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).

Recent Publications

Son WS (2025). [PMID: 41084766](https://pubmed.ncbi.nlm.nih.gov/41084766/). *J Yeungnam Med Sci*. [Case Report / Case Series]
Kabra A (2025). [PMID: 40688934](https://pubmed.ncbi.nlm.nih.gov/40688934/). *Cureus*. [Case Report / Case Series]
Salduz A (2024). [PMID: 39058880](https://pubmed.ncbi.nlm.nih.gov/39058880/). *Medicine (Baltimore)*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:85197

GARD

Genetic and Rare Diseases Info Center

GARD:16741

Questions for Your Care Team

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genochondromatosis type 1

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team