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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 syndrome
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Inheritance

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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

Can the brother or sister of a carrier of Shwachman-Diamond syndrome also be a carrier?

Each brother or sister of a carrier of Shwachman-Diamond syndrome has a 50% chance of being a carrier (having the gene mutation) and a 50% chance of not being a carrier.    

If a relative is known to carry an SBDS mutation, other family members can consider genetic testing to determine whether they are carriers.  Meeting with a genetics professional can help determine what, if any, genetic testing is appropriate.
Last updated: 2/11/2015

References
  1. Shwachman-Diamond syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=shwachmandiamondsyndrome.
  2. Rommens JM, Durie PR. Shwachman-Diamond Syndrome. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1756/. Accessed 8/2/2012.


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.