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ACVR1 and Fibrodysplasia Ossificans Progressiva 

ACVR1 and Fibrodysplasia Ossificans Progressiva
Chapter:
ACVR1 and Fibrodysplasia Ossificans Progressiva
Author(s):

Frederick S. Kaplan

, O. W. Towler

, and Eileen M. Shore

DOI:
10.1093/med/9780199934522.003.0056
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date: 25 February 2021

Fibrodysplasia ossificans progressiva (FOP: MIM 135100) is a rare genetic disorder of connective tissue characterized by congenital skeletal malformations, most notably of the great toes, and progressive heterotopic endochondral ossification (HEO) that develops in characteristic anatomic patterns. Episodic disease flare-ups can occur spontaneously or be precipitated by soft tissue injury. Progressive immobility results as extra-skeletal bone replaces soft connective tissues. All patients with FOP that we have examined carry heterozygous gain of function mutations in the BMP type I receptor ACVR1/ALK2, identifying signaling through this receptor and pathway as a key regulator of skeletal development and osteogenic cell and tissue fate decisions. Present management involves early diagnosis, avoidance of tissue injury, and symptomatic treatment of painful flare-ups; however more effective future therapies for FOP may be based on interventions that reduce ACVR1/ALK2 signaling.

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