Fibrodysplasia ossificans progressiva
Autoszomális domináns
An ACVR1 disorder in which muscles and connective tissue progressively turn to bone, usually with malformed big toes at birth; most cases arise as new variants.
Mit változtat a diagnózis
Avoiding biopsies, intramuscular injections and elective surgery prevents flare-ups, and a targeted treatment (palovarotene) is approved in some countries.
Vizsgált gének
Más néven
FOP; progressive myositis ossificans; Stone Man syndrome
