A BRIEF OVERVIEW OF THE VERY RARE FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (STONE MAN SYNDROME)
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disorder with only about 800 million people affected worldwide. It occurs as a result of the mutation in Activin A receptor type 1 (ACVR1) gene leading to extraskeletal structure formation which further gradually progresses to skeletal deformities and premature death. This disorder is also known as stone man syndrome as it causes joints to become frozen resulting in mobility impairment. It is generally identified in early childhood and affects almost every organ. Though there is no approved treatment for this rare disorder, researchers are in progress. Supportive therapy and care can help the patients to some extent by providing temporary relief. In this review, we will briefly outline the information regarding FOP which is difficult to diagnose and whose misdiagnosis is dangerous.
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