Torg Winchester syndrome

Common Name(s)

Torg Winchester syndrome

{15:Zankl et al. (2007)} defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome ({277950}), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.
 

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Condition Specific Organizations

Following organizations serve the condition "Torg Winchester syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

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The terms "Torg Winchester syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.
 

Author(s): Andreas Zankl, Lauren Pachman, Andrew Poznanski, Luisa Bonafé, Fengqiang Wang, Yelena Shusterman, David A Fishman, Andrea Superti-Furga

Journal: J. Bone Miner. Res.. 2007 Feb;22(2):329-33.

 

Torg syndrome is a multicentric osteolysis syndrome of unknown etiology. We identified mutations in the MMP2 gene in a patient with Torg syndrome that resulted in complete loss of MMP2 activity. MMP2 mutations were previously identified in patients with NAO and Winchester syndrome. ...

Last Updated: 18 Jan 2007

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