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Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for genochondromatosis type 2.
3 publications have been identified in PubMed for genochondromatosis type 2. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).
Son WS (2025). [PMID: 41084766](https://pubmed.ncbi.nlm.nih.gov/41084766/). *Journal of Yeungnam medical science*. [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*. [Epidemiology / Natural History]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center