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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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Your Question

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

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes Shwachman-Diamond syndrome?

Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein whose function is unknown, although it is active in cells throughout the body. Researchers suspect that the SBDS protein may play a role in processing RNA (a molecule that is a chemical cousin of DNA). This protein may also be involved in building ribosomes, which are cellular structures that process the cell's genetic instructions to create proteins. It is unclear how SBDS mutations lead to the major signs and symptoms of Shwachman-Diamond syndrome.[1]

In cases where no SBDS mutation is found, the cause of this disorder is unknown.[1]

Last updated: 8/2/2012

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

If one child in a family has Shwachman-Diamond syndrome, what are the chances that a full sibling (who has the same parents) will also be affected?

The parents of an affected child are usually heterozygotes (carriers of one mutated gene). When both parents are known to be carriers, at conception, each sibling of an affected child has a 25% chance of being affected, a 50% chance of being carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sibling is known to be unaffected, the risk of his/her being a carrier is 2/3.[2]
Last updated: 8/2/2012

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:  

  • GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
  • The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
  • The American College of Medical Genetics has a searchable database of US genetics clinics.  
  • The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
Last updated: 12/13/2012