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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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How is Shwachman-Diamond syndrome inherited?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene (called carriers), but they typically do not show signs and symptoms of the condition.[1] 

The mode or type of inheritance of Shwachman-Diamond syndrome in individuals without an identified SBDS mutation is unknown.[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.