Multiple Exostoses, Hereditary
- Wim WuytsAffiliated withDepartment of Medical Genetics, University of Antwerp
- , Filip VanhoenackerAffiliated withDepartment of Medical Genetics, University of Antwerp
- , Wim Van HulAffiliated withDepartment of Medical Genetics, University of Antwerp
Multiple osteochondroma; Multiple cartilaginous exostoses; Diaphyseal aclasis
Definition and Characteristics
Autosomal dominant bone disorder characterized by bony outgrowths (osteochondroma) mainly located at the juxtaepyphyseal parts of the long bones . Number, size, site and shape of the osteochondroma can vary greatly between patients. Pressure of the osteochondromas on neighboring tissues and organs causes pain, reduced mobility and compression of nerves, muscles and blood vessels. Deformity of legs, forearms (resembling Madelung deformity) and shorter stature are frequently observed in osteochondroma patients. In 0.5–2% of these patients chondrosarcoma development is observed.
The prevalence of hereditary multiple exostoses is estimated to be one in 50,000 world wide.
Molecular and Systemic Pathophysiology
Reference Work Entry Metrics
- Multiple Exostoses, Hereditary
- Reference Work Title
- Encyclopedia of Molecular Mechanisms of Disease
- pp 1371-1372
- Print ISBN
- Online ISBN
- Springer Berlin Heidelberg
- Copyright Holder
- Springer-Verlag GmbH Berlin Heidelberg
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