fibrodysplasia ossificans progressiva


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fibrodysplasia ossificans progressiva (FOP)

 
A rare genetic disease characterized by acute soft-tissue swelling after minor trauma, such as dental work or intramuscular injections, that leads to heterotopic bone formation.

fi·bro·dys·pla·si·a os·sif·'i·cans pro·gres·si·'va

[MIM*135100]
a generalized disorder of connective tissue in which there is ectopic ossification with bone replacing tendons, fasciae, and ligaments; a lethal genetic disorder of autosomal dominant inheritance.
See also: fibrous dysplasia of bone.

fibrodysplasia ossificans progressiva

A rare idiopathic or autosomal dominant MIM 135100 condition of irregular penetration and pre-pubertal onset, in which connective/interstitial tissues undergo extensive fibrosis and heterotopic ossification of ligaments, tendons, muscle, fascia, aponeuroses and skin, first seen in late childhood as firm masses. The abnormal development of bone may lead to stiffness in affected areas and may also limit movement in affected joints, e.g., knees, wrists, shoulders, spine, and/or neck
DiffDx Osseous metaplasia, myositis ossificans, extraskeletal osteosarcoma

fibrodysplasia ossificans progressiva

FOP, Generalized myositis ossificans, myositis ossificans progressiva, stone man An idiopathic or AD condition of irregular penetration and pre-pubertal onset, in which connective/interstitial tissues undergo extensive fibrosis and heterotopic ossification of ligaments, tendons, muscle, fascia, aponeuroses, skin, first seen in late childhood as firm masses Clinical Microdactyly, focal, transient, ±painful ossifying tumors in neck, back and extremities, with bony replacement of fasciae, ligaments and fibrotendinous tissue; also baldness, deafness, mental retardation, fever; tragically, Pts may find jobs in circus 'freak' shows; usually glossal, diaphragmatic, laryngeal, and perineal muscles are spared and Pts die of respiratory infections as intercostal muscles become petrified DiffDx Osseous metaplasia, myositis ossificans, extraskeletal osteosarcoma. Cf Parana hard skin syndrome, Stiff man syndrome.
References in periodicals archive ?
The company is developing its lead candidate palovarotene, a novel retinoic acid receptor gamma agonist, to treat fibrodysplasia ossificans progressiva (FOP) and other diseases.
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
For more information about fibrodysplasia ossificans progressiva, go to www.
For more information, contact: International Fibrodysplasia Ossificans Progressiva Association (IFOPA)
About Fibrodysplasia Ossificans Progressiva (FOP) FOP is a rare, severely disabling disease characterized by painful, recurrent episodes of soft tissue swelling (flare-ups) that result in new, abnormal bone formation in muscles, tendons and ligaments.
The topper, though, was "stone man syndrome", or fibrodysplasia ossificans progressiva.
4) Finally, many systemic diseases can lead to auricular ossification, including congenital plaque-like osteomatosis, Albright hereditary osteodystrophy, fibrodysplasia ossificans progressiva, Addison disease, osseous heteroplasia, and collagen vascular diseases, especially CREST syndrome and childhood dermatomyositis.
Floyd, 13, has fibrodysplasia ossificans progressiva, a disease that causes bone cells to form within muscles, tendons, and other connective tissue - forming a second skeleton and eventually immobilizing the body.
Fibrodysplasia Ossificans Progressiva is a disease in which normal bone forms in muscles, tendons and ligaments creating an extra skeleton that immobilizes the body.
Daniel has fibrodysplasia ossificans progressiva (also called FOP, it is a rare genetic disorder that causes bone to form in the body's healthy tissues.
60 million mezzanine round of financing to support the ongoing development of the Company's lead compound palovarotene for the treatment of fibrodysplasia ossificans progressiva (FOP).
today announced the opening of a new site in Paris, France for the Phase 2 clinical trial of palovarotene, the company's lead product candidate for the treatment of fibrodysplasia ossificans progressiva (FOP).