fibrodysplasia ossificans progressiva

Epidemiology

rare

Genetics

• autosomal dominant
• associated with defects in ACVR1

Clinical manifestations

• skeletal malformations
• progressive extraskeletal ossification
  • begins in childhood
  • can be induced by trauma
  • may occur without warning
• bone formation is episodic & progressive, leading to extra-articular ankylosis of all major joints of the axial & appendicular skeleton, rendering movement impossible

More general terms

• myositis ossificans

Database

• OMIM: https://mirror.omim.org/entry/135100