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Winchester syndrome information


Winchester syndrome or Torg-Winchester syndrome or Multicentric Osteolysis, Nodulosis, and Arthropathy
Other namesTorg-Winchester syndrome[1] Multicentric Osteolysis, Nodulosis, and Arthropathy[2]
Matrix Metalloproteinase 2

Winchester syndrome is a rare hereditary connective tissue disease described in 1969,[3] of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal and tarsal bones (in the hands and feet, respectively), and osteoporosis. Winchester syndrome was once considered to be related to a similar condition, multicentric osteolysis, nodulosis, and arthropathy (MONA).[4][5] However, it was discovered that the two are caused by mutations found in different genes; however they mostly produce the same phenotype or clinical picture.[4] Appearances resemble rheumatoid arthritis. Increased uronic acid is 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] Winchester syndrome is thought to be inherited as an autosomal recessive trait.

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Torg Winchester syndrome". www.orpha.net. Retrieved 27 April 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ "OMIM Entry - # 259600 - MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA". omim.org.
  3. ^ a b Winchester P, Grossman H, Lim WN, Danes BS (May 1969). "A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis". Am J Roentgenol Radium Ther Nucl Med. 106 (1): 121–8. doi:10.2214/ajr.106.1.121. PMID 4238825.
  4. ^ a b Elsebaie H, Mansour MA, Elsayed SM, Mahmoud S, El-Sobky TA (December 2021). "Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations". Bone Rep. 15: 101106. doi:10.1016/j.bonr.2021.101106. ISSN 2352-1872. PMC 8283316. PMID 34307793.
  5. ^ Reference, Genetics Home. "Winchester syndrome". Genetics Home Reference. Retrieved 2017-12-12.

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