Winchester syndrome

Torg-Winchester syndrome

Matrix Metalloproteinase 2
OMIM | 259600

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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

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Winchester syndrome in a rare congenital connective tissue disease.

## Historical perspective

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It was first described in 1969.

## Pathophysiology

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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

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

## Diagnosis

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### Symptoms

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

### Physical examination

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#### Appearance of the patient

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The characteristic features include short stature with coarse facial features.

#### Head

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Coarse face

#### Eye

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Opacities in the cornea

#### Extremities

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Marked contractures of joints

### Lab tests

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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

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#### X-ray

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* 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

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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.CS1 maint: Multiple names: authors list (link)
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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
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.CS1 maint: Multiple names: authors list (link)

## External links

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* Rare diseases: Winchester syndrome

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