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

Rare Disease

metachondromatosis

MONDO:0007979

Also known as:METCDS

Overview

Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.

GeneticsAutosomal dominant · PTPN11 (chr 12)

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 always present findings: Multiple exostoses and Multiple enchondromatosis. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Bowing of the long bones, Abnormal joint morphology
Arms and legs

Genetic Landscape

PTPN11 function has not been fully characterized.

Metachondromatosis is associated with mutations in the PTPN11 gene on chromosome 12.

Diagnosis

Genetic testing for PTPN11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present 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 metachondromatosis.

2 publications have been identified in PubMed for metachondromatosis. Research spans Review / Meta-Analysis (100%).

Recent Publications

Yang W (2025). [PMID: 40379623](https://pubmed.ncbi.nlm.nih.gov/40379623/). *Bone Res*. [Review / Meta-Analysis]
Blasco A (2024). [PMID: 39027184](https://pubmed.ncbi.nlm.nih.gov/39027184/). *Rev Bras Ortop (Sao Paulo)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:156250

Orphanet

European rare disease database

Orphanet:2499

GARD

Genetic and Rare Diseases Info Center

GARD:3560

Questions for Your Care Team

→Should I pursue genetic testing for PTPN11, and what would the results mean for my family?
→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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metachondromatosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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