Fibrodysplasia Ossificans Progressiva

Researchers discover new bone deformity gene

(Medical Xpress) -- The Human Genetics team at The University of Queensland Diamantina Institute have successfully used a new gene-mapping approach for patients affected by severe skeletal abnormalities.

May 04, 2011
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Fibrodysplasia ossificans progressiva (FOP), sometimes referred to as Stone Man Syndrome, is an extremely rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified when damaged. In many cases, injuries can cause joints to become permanently frozen in place. Surgical removal of the extra bone growths has been shown to cause the body to "repair" the affected area with more bone.

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