Stone Man Syndrome

Stone Man Syndrome

Article
Bone, Muscle, & Joint
Healthy Lungs
+2
Contributed byKrish Tangella MD, MBAJun 23, 2020

The topic Stone Man Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Fibrodysplasia Ossificans Progressiva.

Quick Summary:

  • Fibrodysplasia Ossificans Progressiva (FOP) is the formation of abnormal bone in the muscle, tendon, ligament, and other connective tissue, where bone is typically not present. The formation of bone in the extraskeletal tissue results in limitation of one’s normal movements
  • Any trauma to the muscles or viral illnesses can cause a flare-up of the condition in an affected individual. Fibrodysplasia Ossificans Progressiva is inherited in an autosomal dominant pattern, and hence, only one copy of the defective gene is sufficient to cause this disorder. FOP is caused by mutations in the ACVR1 gene
  • Children with FOP are generally born with a malformed big toe. The disorder is so rare that most of the cases are misdiagnosed as cancer
  • The diagnosis of Fibrodysplasia Ossificans Progressiva requires a complete evaluation of medical history along with a thorough physical exam. Blood tests during flare-ups are performed to check the elevated levels of alkaline phosphatase and bone specific alkaline phosphatase
  • Complications associated with the condition include eating and chewing difficulties due to involvement of the jaw muscles and joints and breathing difficulties due to chest muscles and diaphragm involvement
  • Fibrodysplasia Ossificans Progressiva cannot be effectively treated or prevented. Individuals with FOP are typically wheel-chair bound by their twenties and affected by fatal complications of thoracic insufficiency syndrome complications; when the thorax cannot support lung growth or normal respiration

Please find comprehensive information on Fibrodysplasia Ossificans Progressiva regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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