hereditary multiple exostoses

An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.

Signs and symptoms

• Multiple exostoses
• Madelung-like forearm deformities
• Pelvic bone exostoses
• Short metacarpal
• Scapular exostoses
• Coxa vara
• Peripheral nerve compression
• Cervical myelopathy
• Genu valgum
• Protuberances at ends of long bones

Also known as: Multiple congenital exostosis; Multiple exostosis syndromes; Osteochondromatosis syndrome; hereditary multiple exostoses 1; hereditary multiple exostoses 2