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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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Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. About 90% of cases of Shwachman-Diamond syndrome are caused by mutations in the SBDS gene. In cases where no SBDS mutation is found, the cause of this disorder is unknown. This condition is inherited in an autosomal recessive manner.[1] Treatment may include enzyme and vitamin supplementation, blood and/or platelet transfusion, administration of granulocyte-colony stimulating factor (G-CSF), and/or hematopoietic stem cell transplantation.[2]

Last updated: 8/2/2012


  1. Shwachman-Diamond syndrome. Genetics Home Reference (GHR). 2007;
  2. Rommens JM, Durie PR. Shwachman-Diamond Syndrome. GeneReviews. 2008; Accessed 8/2/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Shwachman-Diamond syndrome. This website is maintained by the National Library of Medicine.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.  Click on the link to view information on this topic. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Shwachman-Diamond syndrome. Click on the link to view a sample search on this topic.