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Diseases

Genetic and Rare Diseases Information Center (GARD)

Shwachman-Diamond syndrome


Other Names for this Disease
  • SDS
  • Pancreatic insufficiency and bone marrow dysfunction
  • Shwachman-Bodian syndrome
  • Lipomatosis of pancreas, congenital
  • Congenital lipomatosis of pancreas
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Questions Answered


4 question(s) from the public on this disease have been answered. Submit a new question.
  • I have a niece who has this syndrome, and both parents are carriers of a mutation. If my brother is a carrier of the gene mutation, can I be a carrier too? Click here for answer

  • If one child has Shwachman-Diamond syndrome, will the second child have it as well if the parents are the same? Click here for answer

  • How is the diagnosis of Shwachman-Diamond syndrome confirmed?  Click here for answer

  • What is Shwachman-Diamond syndrome and what causes it? Click here for answer

Other Names for this Disease
  • SDS
  • Pancreatic insufficiency and bone marrow dysfunction
  • Shwachman-Bodian syndrome
  • Lipomatosis of pancreas, congenital
  • Congenital lipomatosis of pancreas
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.