Torg-Winchester syndrome

(redirected from nodulosis-arthropathy-osteolysis syndrome)

Torg-Winchester syndrome

An autosomal recessive syndrome (OMIM:259600) characterised by generalised osteolysis and osteopenia, coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gingival hypertrophy.

Molecular pathology
TWS is caused by mutation of MMP2 on chromosome 16q13-q21, which encodes matrix metalloproteinase 2.
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