Torg-Winchester syndrome

(redirected from Winchester 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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LAHORE -- The first-ever successful operation of Winchester syndrome of a eight-year-old boy in country's history was performed here at Hameed Lateef Hospital on Sunday.
To a question, Dr Muaaz said Winchester Syndrome was a rare inherited disease, characterised by a loss of bone tissue (osteolysis), particularly in hands and feet.
The major signs of Winchester syndrome are short stature, coarse facial features, a flat nose, swollen joints, stiffening of joints (contractures), deterioration of (resorption) bone, particularly in the hands, feet, elbows and knees, he added.
Winchester syndrome is a rare inherited disease characterized by severe osteolysis particularly in the hands and feet, generalized osteoporosis and absence of subcutaneous nodules.
KEY WORDS: Winchester Syndrome; Osteoporosis; Osteolysis
Winchester syndrome is an extremely rare disorder inherited as an autosomal recessive trait.
Here, we report a case of a middle-aged woman with Winchester syndrome. Rheumatoid factor was negative.
The winchester syndrome: A nonlysosomal connective tissue disease.
There is one difference though: that throughout his life, Shyam has also dealt with a disability in the form of Winchester Syndrome, a rare life-limiting congenital connective tissue disease.
Winchester syndrome (OMIM 277950), systemic fibromatosis (OMIM 228550), stiff skin syndrome (OMIM 184900), lipoid proteinosis (OMIM 247100), and storage diseases including mucopolysacharoses, sphingolipidoses and mucilipidoses [Osterby et al., 2002; Zolkpi et al., 2003; Lim et al., 2005; Yayli et al., 2006; Al-Mayouf 2007; ,Al-Malik et al., 2007; Shieh et al., 2008; Al-Mubarak et al., 2009].