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.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
Osteopathies or chondropathies
FB86 Disorders associated with bone growth
H02089 Winchester syndrome
