Winchester syndrome

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List of terms related to Winchester syndrome

	Torg-Winchester syndrome;
	Matrix Metalloproteinase 2
OMIM	259600

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: Torg-Winchester syndrome, Nodulosis-arthropathy-osteolysis syndrome, NAO syndrome, Torg syndrome

Overview[edit | edit source]

Winchester syndrome in a rare congenital connective tissue disease.

Historical perspective[edit | edit source]

It was first described in 1969.

Pathophysiology[edit | edit source]

Winchester syndrome is an autosomal recessive connective tissue disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene.^[1] A 2006 study showed other mutations in the same gene, and observed that Winchester syndrome is probably part of a continuum that also includes Torg syndrome and nodulosis-arthropathy-osteolysis syndrome (NAO).^[2]

Differentiating from other diseases[edit | edit source]

Winchester syndrome should be differentiated from rheumatoid arthritis.^[3]

Diagnosis[edit | edit source]

Symptoms[edit | edit source]

Multiple, painless, subcutaneous nodules
Pain due to fractures
Vision problems
Joint pains

Physical examination[edit | edit source]

Appearance of the patient[edit | edit source]

The characteristic features include short stature with coarse facial features.

Head[edit | edit source]

Coarse face

Eye[edit | edit source]

Opacities in the cornea

Extremities[edit | edit source]

Marked contractures of joints

Lab tests[edit | edit source]

Increased uronic acid was demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis.^[3]

Imaging[edit | edit source]

X-ray[edit | edit source]

Dissolution of the carpal and tarsal bones (in the hands and feet respectively)
Characteristic widening of the metacarpal and metatarsal bones
Osteoporosis and bone thinning

References[edit | edit source]

↑ Zankl A, Bonafé L, Calcaterra V, Di Rocco M, Superti-Furga A (2005). "Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2". Clin. Genet. 67 (3): 261–6. doi:10.1111/j.1399-0004.2004.00402.x. PMID 15691365.
↑ Rouzier C, Vanatka R, Bannwarth S; et al. (2006). "A novel homozygous MMP2 mutation in a family with Winchester syndrome". Clin. Genet. 69 (3): 271–6. doi:10.1111/j.1399-0004.2006.00584.x. PMID 16542393.
↑ ^3.0 ^3.1 Winchester P, Grossman H, Lim WN, Danes BS (1969). "A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis". Am J Roentgenol Radium Ther Nucl Med. 106 (1): 121–8. PMID 4238825.

External links[edit | edit source]

Rare diseases: Winchester syndrome

Template:WS

[pmid15691365-1] Zankl A, Bonafé L, Calcaterra V, Di Rocco M, Superti-Furga A (2005). "Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2". Clin. Genet. 67 (3): 261–6. doi:10.1111/j.1399-0004.2004.00402.x. PMID 15691365.

[pmid16542393-2] Rouzier C, Vanatka R, Bannwarth S; et al. (2006). "A novel homozygous MMP2 mutation in a family with Winchester syndrome". Clin. Genet. 69 (3): 271–6. doi:10.1111/j.1399-0004.2006.00584.x. PMID 16542393.

[pmid4238825-3] 3.0 ^3.1 Winchester P, Grossman H, Lim WN, Danes BS (1969). "A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis". Am J Roentgenol Radium Ther Nucl Med. 106 (1): 121–8. PMID 4238825.

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[2]

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Torg-Winchester syndrome
Matrix Metalloproteinase 2
OMIM	259600