fibrodysplasia ossificans progressiva

A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.

Signs and symptoms

• Elevated circulating alkaline phosphatase concentration
• Hallux valgus
• Limitation of neck motion
• Ectopic ossification in muscle tissue
• Metaphyseal widening
• Broad femoral neck
• Alopecia
• Short hallux
• Hamartoma
• Delayed toe phalanx ossification

Also known as: Stone Man Syndrome; myositis ossificans progressiva; progressive myositis ossificans; progressive ossifying myositis