Winchester Syndrome

Abstract

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Synonyms of Winchester Syndrome

• Winchester-Grossman Syndrome

Disorder Subdivisions

• No subdivisions found.

General Discussion

Winchester syndrome is an extremely rare connective tissue disorder believed by some scientists to be closely related to the mucopolysaccharidoses, which is a group of hereditary metabolic diseases caused by the absence or malfunction of certain enzymes, leading to the accumulation in cells and tissues of molecules that would normally be broken down into smaller units. This syndrome is characterized by short stature, arthritis-like symptoms, nodules under the skin (subcutaneous), coarse facial features, and eye and teeth abnormalities. Winchester syndrome is believed to be inherited as an autosomal recessive trait.

Organizations related to Winchester Syndrome

• Genetic and Rare Diseases (GARD) Information Center
  • PO Box 8126
  • Gaithersburg, MD 20898-8126
  • Phone #: 301-251-4925
  • 800 #: 888-205-2311
  • e-mail: N/A
  • Home page: http://rarediseases.info.nih.gov/GARD/
• NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
  • Information Clearinghouse
  • One AMS Circle
  • Bethesda, MD 20892-3675 USA
  • Phone #: 301-495-4484
  • 800 #: 877-226-4267
  • e-mail: NIAMSinfo@mail.nih.gov
  • Home page: http://www.niams.nih.gov/

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