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Other Names for this Disease
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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.Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple
Last updated: 10/9/2012
- Judith Bovee and Christianne Reijnders. Metachondromatosis. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2499. Accessed 10/8/2012.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.
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.