Diseases & Conditions


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Shwachman Syndrome


Synonyms of Shwachman Syndrome
  • Lipomatosis of Pancreas, Congenital
  • Pancreatic Insufficiency and Bone Marrow Dysfunction
  • Shwachman-Bodian Syndrome
  • Shwachman-Diamond-Oski Syndrome
  • Shwachman-Diamond Syndrome

Disorder Subdivisions



    General Discussion
    Shwachman syndrome is a rare genetic disorder with multiple and varied manifestations. The disorder is typically characterized by signs of insufficient absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency) and improper functioning of the bone marrow (bone marrow dysfunction), resulting in low levels of circulating blood cells (hematologic abnormalities). Additional characteristic findings may include short stature; abnormal bone development affecting the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); and/or liver abnormalities.

    Due to abnormal skeletal changes, individuals with Shwachman syndrome may have abnormal thickening of the ribs and their supporting connective tissue (costochondral thickening), resulting in unusually short, flared ribs. In addition, improper bone development (abnormal ossification) within the arms and/or legs (limbs) may cause growth delay in particular bones. Many children with Shwachman syndrome may also be smaller than expected for their ages, with below average height (short stature) and weight. Although malabsorption due to pancreatic insufficiency may itself cause problems with growth and nutrition, short stature appears to be one of the many primary manifestations of Shwachman syndrome.

    In addition, as a result of bone marrow dysfunction, individuals with Shwachman syndrome may have a decrease in any or all types of blood cells. Therefore, they may have low levels of certain white blood cells (neutropenia), platelets (thrombocytopenia), red blood cells (anemia), and/or all types of blood cells (pancytopenia). Neutropenia is the most common blood abnormality associated with Shwachman syndrome. Because neutrophils, a type of white blood cell, play an essential role in fighting bacterial infections, many affected individuals are prone to repeated bacterial infections (e.g., recurrent respiratory infections [pneumonia] and infections of the middle ear [otitis media]); in some cases, infections may be severe.

    Some affected individuals may also have abnormal enlargement of the liver (hepatomegaly), increased levels of certain liver enzymes in the blood, and/or other findings in association with the disorder. Shwachman syndrome is believed to be inherited as an autosomal recessive trait.

    Organizations related to Shwachman Syndrome
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • 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
    • NIH/National Digestive Diseases Information Clearinghouse
      2 Information Way
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: 800-891-5389
      e-mail: nddic@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov
    • NIH/National Heart, Lung and Blood Institute Information Center
      P.O. Box 30105
      Bethesda MD 20824-0105
      Phone #: 301-592-8573
      800 #: --
      e-mail: nhlbiinfo@rover.nhlbi.nih.gov
      Home page: N/A
    • National Neutropenia Network
      PO Box 1693
      Brighton MI 48116
      Phone #: 810-229-5797
      800 #: N/A
      e-mail: leereeves99@gmail.com
      Home page: http://www.neutropenianet.org
    • Neutropenia Support Association, Inc.
      971 Corydon Avenue
      Manitoba None R3M 3S7
      Phone #: 204-489-8454
      800 #: 800-663-8876
      e-mail: stevensl@neutropenia.ca
      Home page: http://www.neutropenia.ca
    • Shwachman-Diamond Syndrome Foundation
      127 Western Avenue
      Sherborn MA 01770
      Phone #: 888-825-7373
      800 #: 888-825-7373
      e-mail: info@shwachman-diamond.org
      Home page: http://www.shwachman-diamond.org



    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

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