Bones in muscles, elongated toes – this rare incurable disease is nothing but horrifying
Image Credit : Google
Image Credit : Google
Stoneman Syndrome, also known as Stone Man Disease is an extremely rare genetic disorder characterized by abnormal bone growth, leading to the formation of bone in muscles, tendons, and other connective tissues.
Image Credit : Google
Genetic Mutation
Stoneman Syndrome is caused by a mutation in the ACVR1 gene. This mutation disrupts the normal regulatory processes of bone formation, leading to the abnormal bone growth seen in FOP patients.
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FOP is a progressive condition. Over time, the extra bone growth gradually restricts movement, leading to loss of joint mobility.
Progressive Nature
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Babies with Stoneman Syndrome are born with a normal appearance, and the symptoms often begin to manifest during early childhood.
Birth with Normal Appearance
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Inflammation or trauma, even minor incidents like a fall or injection, can trigger episodes of rapid and painful bone growth in FOP patients.
Triggering Factors
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There is no cure for Stoneman Syndrome. Treatment focuses on pain management and improving quality of life.
Treatment Challenges