Definition
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant form of connective tissue disorder characterized by congenital malformation of the great toes and progressive, disabling heterotopic osteogenesis in predictable anatomical patterns. Heterotopic bone formations lead to a debilitating, progressive ankylosis of the trunk, limbs and jaw. The mechanism by which bone forms out of muscles, tendons and ligaments is still poorly understood, but bone morphogenetic proteins (BMP), and particularly BMP4, are likely to play a direct or indirect role. The unraveling of the genetic defect is still hampered by the paucity of multigenerational families. Linkage studies suggest the FOP locus maps to chrosomome 4. A putative genetic heterogeneity, once hypothesized, has not been confirmed. Genetic counseling for FOP is difficult because of the absence of specific biological markers or reliable linkage studies. The risk of having a second affected child is nevertheless limited in a given family with a sporadic case. Therapeutic measures are essentially preventive and aimed at reducing the impact of trauma and falls and iatrogenic complications.
Also indexed as
FOP - [fibrodysplasia ossificans progressiva]Fibrodysplasia ossificans progressivaFibrodysplasia ossificans progressiva, acromioclavicular jointFibrodysplasia ossificans progressiva, ankle jointFibrodysplasia ossificans progressiva, ankle or footFibrodysplasia ossificans progressiva, buttockFibrodysplasia ossificans progressiva, carpusFibrodysplasia ossificans progressiva, elbow jointFibrodysplasia ossificans progressiva, fingersFibrodysplasia ossificans progressiva, forearmFibrodysplasia ossificans progressiva, glenohumeral jointFibrodysplasia ossificans progressiva, handFibrodysplasia ossificans progressiva, headFibrodysplasia ossificans progressiva, hip jointFibrodysplasia ossificans progressiva, knee jointFibrodysplasia ossificans progressiva, lower legFibrodysplasia ossificans progressiva, metacarpusFibrodysplasia ossificans progressiva, metatarsusFibrodysplasia ossificans progressiva, multiple sitesFibrodysplasia ossificans progressiva, neckFibrodysplasia ossificans progressiva, other joints in footFibrodysplasia ossificans progressiva, pelvic region or thighFibrodysplasia ossificans progressiva, shoulder regionFibrodysplasia ossificans progressiva, sternoclavicular jointFibrodysplasia ossificans progressiva, tarsusFibrodysplasia ossificans progressiva, toesFibrodysplasia ossificans progressiva, upper armFibrodysplasia ossificans progressiva, vertebral columnFibrodysplasia ossificans progressiva, wrist jointMan of stoneMyositis ossificans associated with dermatopolymyositisMyositis ossificans progressivaMyositis ossificans progressiva, acromioclavicular jointMyositis ossificans progressiva, ankle jointMyositis ossificans progressiva, ankle or footMyositis ossificans progressiva, buttockMyositis ossificans progressiva, carpusMyositis ossificans progressiva, elbow jointMyositis ossificans progressiva, fingersMyositis ossificans progressiva, forearmMyositis ossificans progressiva, glenohumeral jointMyositis ossificans progressiva, handMyositis ossificans progressiva, headMyositis ossificans progressiva, hip jointMyositis ossificans progressiva, knee jointMyositis ossificans progressiva, lower legMyositis ossificans progressiva, metacarpusMyositis ossificans progressiva, metatarsusMyositis ossificans progressiva, multiple sitesMyositis ossificans progressiva, neckMyositis ossificans progressiva, other joints in footMyositis ossificans progressiva, pelvic region or thighMyositis ossificans progressiva, shoulder regionMyositis ossificans progressiva, sternoclavicula jointMyositis ossificans progressiva, tarsusMyositis ossificans progressiva, toesMyositis ossificans progressiva, upper armMyositis ossificans progressiva, vertebral columnMyositis ossificans progressiva, wrist jointMünchmeyer diseasediffuse progressive ossifying polymyositisfibrodysplasia ossificans congenitamyositis ossificans progressiva, site unspecifiedpolymyositis ossificansprogressive myositis ossificansprogressive myositis ossificans calcification