Fibrodysplasia ossificans progressiva: Stone Man Syndrome

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sign is that children with FOP “scoot on their buttocks [instead of crawling]” (Vietti ) “Inflamed (and sometimes painful) swellings” are yet another sign of Stone Man Syndrome ("Working to Raise Awareness and Help Find a Cure.").
FOP is caused by a mutation on the “The ACVR1 gene [which,] provides instructions for producing a member of a protein family called bone morphogenetic protein”("Fibrodysplasia Ossificans Progressiva." U.S. National Library of Medicine). The disease is a dominant trait which means only “one copy of the altered gene” is needed to inherit the disease ("Fibrodysplasia Ossificans Progressiva." U.S. National Library of Medicine). If a parent has the disease, then their is a high chance that their offspring will inherit the disease. Fibrodysplasia Ossificans Progressiva is misdiagnosed an “estimated at 80 percent [of diagnoses done] or higher” ("Fibrodysplasia Ossificans Progressiva." U.S. National Library of Medicine). The disease is ...

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