What is metachondromatosis?

Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the iliac crests and metaphyses of long bones. The lesions typically spontaneously decrease in size or regress. Nerve paralysis or vascular complications may occur in some cases. The condition has been linked to mutations in the PTPN11 gene in several families and is inherited in an autosomal dominant manner. Treatment may include surgery to remove osteochondromas in severe cases.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Metachondromatosis resources

Sobreira NLM, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, et al., 2010, Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene, PLoS Genet 6(6): e1000991.

Last updated on 04-27-20

Name: MHE and Me- A Support Group for Kids with Multiple Hereditary Exostoses PO Box 651
Pine Island, NY, 10969-0651,
Phone: 845-258-6058 Email: Url:

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