Fibrodysplasia ossificans progressiva
Some of this article's
|Fibrodysplasia ossificans progressiva|
|Other names||FOP, Stoneman disease|
|The effects of fibrodysplasia ossificans progressiva, a disease which causes damaged soft tissue to regrow as bone.|
|Usual onset||Before age 10|
|Prognosis||Median life expectancy ≈ 40 years old (if properly managed)|
|Frequency||800 confirmed cases worldwide (2017); incidence rate estimated to be 0.5 cases per million people|
Fibrodysplasia ossificans progressiva (/ˌfaɪbroʊdɪˈspleɪʒə ɑˈsɪfəˌkænz prəˈgrɛsəvə/, FOP) is an extremely rare
The disease is caused by a
Surgical removal of the extra bone growths has been shown to cause the body to "repair" the affected area with even more bone. Although the rate of bone growth develops differently depending on the patient, the condition ultimately leaves those affected in a "frozen" position as new bone replaces musculature and fuses with the skeleton. If possible, adult patients eventually have to decide on a position they wish to predominantly assume for the rest of their lives.
For unknown reasons, children born with FOP have deformed
Specifically, ossification is typically first seen in the dorsal, axial, cranial and proximal regions of the body. Later the disease progresses in the ventral, appendicular, caudal and distal regions of the body. However, it does not necessarily occur in this order due to injury-caused flare-ups. Often, the tumor-like lumps that characterize the disease appear suddenly. This condition causes loss of mobility to affected joints, including the inability to fully open the mouth, limiting speech and eating; a specific occurrence of this condition to the foot joints can result in limited ability of the FOP patient to put a foot flat on the ground. Bone growth can also result in the immobilization of the hip or knee, also limiting the individual's ability to walk. Extra bone formation around the rib cage restricts the expansion of lungs and diaphragm causing respiratory complications.
Since the disease is so rare, the condition may be misdiagnosed as
The median age of survival is 40 years with proper management. However, delayed diagnosis, trauma, and infections can decrease life expectancy.