Fibrodysplasia ossificans progressiva
Autosomal dominant
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.
What a diagnosis changes
Avoiding biopsies, intramuscular injections and elective surgery prevents flare-ups, and a targeted treatment (palovarotene) is approved in some countries.
Genes analysed
Also known as
FOP; progressive myositis ossificans; Stone Man syndrome
