Winchester syndrome

Definition:

Winchester syndrome is a rare skeletal disorder originally described nearly 50 years ago in two sisters with a severe crippling osteolysis. Previously, Winchester syndrome and multicentric osteolysis, nodulosis, and arthropathy (MONA) [DS:H00472] were presumed to be allelic disorders arising from mutations in the MMP2 gene. But it has been demonstrated that mutations in MMP14 result in this disease.

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