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Diseases

Genetic and Rare Diseases Information Center (GARD)

Shwachman-Diamond syndrome


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