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Winchester syndrome

Summary

Winchester syndrome (WNCHRS) presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007). Reviews Winter (1989) provided a review of Winchester syndrome. De Vos et al. (2019) reviewed Winchester syndrome, Frank-Ter Haar syndrome (249420), and MONA, tabulating the clinical features of 63 reported patients and noting significant overlap, including craniofacial malformations, reduced bone density, skeletal and cardiac anomalies, and dermal fibrosis. Because the protein products of all 3 causative genes (MMP14; SH3PXD2B, 613293; MMP2, 120360) are involved in collagen remodeling, the authors suggested grouping them together in a revised nosologic classification, designated 'defective collagen-remodeling spectrum (DECORS).' [from OMIM]

Available tests

5 tests are in the database for this condition.

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Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MMP-14, MMP-X1, MT-MMP, MT-MMP 1, MT1-MMP, MT1MMP, MTMMP1, WNCHRS, MMP14
    Summary: matrix metallopeptidase 14

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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