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Disease Information for Exostosis, multiple
- Clinical Manifestations
- Signs & Symptoms
- Subcutaneous hard bony nodules
- Ankle Bony Mass
- Bone Mass/Local Swelling
- Radius Bone Mass
- Skull bony swelling
- Associated Diseases & Rule outs
- Rule Outs
- Osteoarthritis, degenerative
- Associated Disease & Complications
- Exostosis
- Disease Mechanism & Classification
- Class
- CLASS/Bone disorder (ex)
- CLASS/Skeletal (category)
- Pathophysiology
- Pathophysiology/Gene Locus Identified/OMIM database
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Gene locus 8p (Short arm chromosome 8)
- Pathophysiology/Gene locus 8q24
- Pathophysiology/Gene locus chromosome 8
- Process
- PROCESS/Structural/anatomic/foreign body (category)
- Definition
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Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.
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- External Links Related to Exostosis, multiple
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)