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.

References:

[1]. Brad R Evans, et al. Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. Am J Hum Genet. 2012 Sep 7;91(3):572-6. [Content Brief]

[2]. P Winchester, et al. A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. Am J Roentgenol Radium Ther Nucl Med. 1969 May;106(1):121-8. [Content Brief]

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