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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Shwachman-Diamond syndrome


Other Names for this Disease
  • Congenital lipomatosis of pancreas
  • Lipomatosis of pancreas, congenital
  • Pancreatic insufficiency and bone marrow dysfunction
  • SDS
  • Shwachman-Bodian syndrome
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Symptoms


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What symptoms may be associated with Shwachman-Diamond syndrome?

Shwachman-Diamond syndrome 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.[1] 

As a result of the bone marrow dysfunction, individuals with Shwachman-Diamond syndrome have a higher-than-average chance of developing myelodysplastic syndrome (MDS) and aplastic anemia, which are disorders that affect blood cell production, and a cancer of blood-forming tissue known as acute myeloid leukemia (AML).[2]
Last updated: 9/17/2010

References
  1. Black V. Shwachman Syndrome. National Organization of Rare Disorders (NORD). 2009; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Shwachman%20Syndrome. Accessed 7/9/2009.
  2. Shwachman-Diamond syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=shwachmandiamondsyndrome.