Torg-Winchester syndrome

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Torg-Winchester syndrome2016-11-28T07:07:36+00:00

Torg-Winchester syndrome

ORTHOPAEDICS

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

Molecular pathology Defect of MMP2, which encodes matrix metalloproteinase 2, an enzyme that degrades type IV collagen and is involved in remodelling vasculature, endometrial menstrual breakdown, angiogenesis, tissue repair, cause Torg-Winchester syndrome.  

Synonyms MONA, multicentric osteolysis with nodulosis and arthropathy, NOA syndrome, nodulosis-arthropathy-osteolysis syndrome, Torg syndrome, Winchester syndrome

References http://www.ctgt.net/tests/torg-winchester-syndrome

http://www.omim.org/entry/259600

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