Diseases & Conditions


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Winchester Syndrome


Synonyms of Winchester Syndrome
  • Winchester-Grossman Syndrome

Disorder Subdivisions



    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 #: 301-519-3194
      800 #: 888-205-2311
      e-mail: gardinfo@nih.gov
      Home page: http://www.genome.gov/10000409
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html