Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva is an ultra-rare, severely disabling autosomal dominant genetic disorder of the connective and musculoskeletal systems Most commonly caused by activating mutations in the *ACVR1* gene, the condition leads to dysregulated bone morphogenetic protein signaling that drives progressive, endochondral heterotopic ossification within skeletal muscle, tendons, ligaments, and fascia Over time, cumulative extraskeletal bone formation bridges joints across the axial and...

Fibrodysplasia ossificans progressiva is an ultra-rare, severely disabling autosomal dominant genetic disorder of the connective and musculoskeletal systems Most commonly caused by activating mutations in the *ACVR1* gene, the condition leads to dysregulated bone morphogenetic protein signaling that drives progressive, endochondral heterotopic ossification within skeletal muscle, tendons, ligaments, and fascia

Fibrodysplasia ossificans progressiva is an ultra-rare, severely disabling autosomal dominant genetic disorder of the connective and musculoskeletal systems Most commonly caused by activating mutations in the *ACVR1* gene, the condition leads to dysregulated bone morphogenetic protein signaling that drives progressive, endochondral heterotopic ossification within skeletal muscle, tendons, ligaments, and fascia Clinically, affected individuals typically present at birth with characteristic congen...

Most commonly caused by activating mutations in the *ACVR1* gene, the condition leads to dysregulated bone morphogenetic protein signaling that drives progressive, endochondral heterotopic ossification within skeletal muscle, tendons, ligaments, and fascia

Clinically, affected individuals typically present at birth with characteristic congenital malformations of the great toes, followed in early childhood by episodic, painful soft-tissue flare-ups often triggered by minor trauma, intramuscular injections, or viral illness

Clinically, affected individuals typically present at birth with characteristic congenital malformations of the great toes, followed in early childhood by episodic, painful soft-tissue flare-ups often triggered by minor trauma, intramuscular injections, or viral illness Over time, cumulative extraskeletal bone formation bridges joints across the axial and appendicular skeleton, culminating in progressive immobility, ankylosis, and life-threatening thoracic insufficiency