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Metachondromatosis
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Overview
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.[1]
References
- Judith Bovee and Christianne Reijnders. Metachondromatosis. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2499. Accessed October 8, 2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Metachondromatosis have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Metachondromatosis. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Metachondromatosis. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- 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.