Abstract
Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare and disabling disorder that affects 1 in 2 million individuals worldwide. It is caused by mutations in bone morphogenetic protein which leads to extra-skeletal ossification of soft tissues in a characteristic cranio-caudal pattern. Hallux valgus, episodic flares and progressive functional disability are characteristic features. The cause of death is often cardio-respiratory failure following thoracic insufficiency.
Highlights
Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling disorder with a worldwide prevalence of approximately one in two million individuals [1]
Due to the rarity of this condition, the medical fraternity’s awareness of FOP is limited and low diagnosis rates might reflect this lack of knowledge
There is no ethnic, racial, gender, or geographic predisposition [2]. It is caused by a heterozygous activation or gain of function mutation in ACTIVIN A receptor or type 1 ACTIVIN LIKE KINASE 2 bone morphogenetic protein [3]. It is characterized by extra-skeletal ossification of soft tissues with episodic flare ups and progressive functional disability [2]
Summary
Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling disorder with a worldwide prevalence of approximately one in two million individuals [1]. There is no ethnic, racial, gender, or geographic predisposition [2] It is caused by a heterozygous activation or gain of function mutation in ACTIVIN A receptor or type 1 ACTIVIN LIKE KINASE 2 bone morphogenetic protein [3]. It is characterized by extra-skeletal ossification of soft tissues with episodic flare ups and progressive functional disability [2]. Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare and disabling disorder that affects 1 in 2 million individuals worldwide It is caused by mutations in bone morphogenetic protein which leads to extra-skeletal ossification of soft tissues in a characteristic cranio-caudal pattern. The cause of death is often cardio-respiratory failure following thoracic insufficiency
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