Winchester syndrome

(Redirected from Torg syndrome)
Jump to navigation Jump to search
Torg-Winchester syndrome
Matrix Metalloproteinase 2
OMIM 259600

WikiDoc Resources for Winchester syndrome

Articles

Most recent articles on Winchester syndrome

Most cited articles on Winchester syndrome

Review articles on Winchester syndrome

Articles on Winchester syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Winchester syndrome

Images of Winchester syndrome

Photos of Winchester syndrome

Podcasts & MP3s on Winchester syndrome

Videos on Winchester syndrome

Evidence Based Medicine

Cochrane Collaboration on Winchester syndrome

Bandolier on Winchester syndrome

TRIP on Winchester syndrome

Clinical Trials

Ongoing Trials on Winchester syndrome at Clinical Trials.gov

Trial results on Winchester syndrome

Clinical Trials on Winchester syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Winchester syndrome

NICE Guidance on Winchester syndrome

NHS PRODIGY Guidance

FDA on Winchester syndrome

CDC on Winchester syndrome

Books

Books on Winchester syndrome

News

Winchester syndrome in the news

Be alerted to news on Winchester syndrome

News trends on Winchester syndrome

Commentary

Blogs on Winchester syndrome

Definitions

Definitions of Winchester syndrome

Patient Resources / Community

Patient resources on Winchester syndrome

Discussion groups on Winchester syndrome

Patient Handouts on Winchester syndrome

Directions to Hospitals Treating Winchester syndrome

Risk calculators and risk factors for Winchester syndrome

Healthcare Provider Resources

Symptoms of Winchester syndrome

Causes & Risk Factors for Winchester syndrome

Diagnostic studies for Winchester syndrome

Treatment of Winchester syndrome

Continuing Medical Education (CME)

CME Programs on Winchester syndrome

International

Winchester syndrome en Espanol

Winchester syndrome en Francais

Business

Winchester syndrome in the Marketplace

Patents on Winchester syndrome

Experimental / Informatics

List of terms related to Winchester syndrome

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

Winchester syndrome in a rare congenital connective tissue disease.

Historical perspective

It was first described in 1969.

Pathophysiology

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

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

Diagnosis

Symptoms

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

Physical examination

Appearance of the patient

The characteristic features include short stature with coarse facial features.

Head

Coarse face

Eye

Opacities in the cornea

Extremities

Marked contractures of joints

Lab tests

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

X-ray

  • 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

  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.
  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.
  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.

External links


Template:WS