SOST-related sclerosing bone dysplasia

A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.

Signs and symptoms

• Cranial nerve paralysis
• Hearing impairment
• Optic atrophy from cranial nerve compression
• Thickened cortex of long bones
• Elevated circulating alkaline phosphatase concentration
• Increased bone mineral density
• Headache
• Elevated circulating PINP concentration
• Cranial hyperostosis

Also known as: van Buchem disease