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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 Question

How is the diagnosis of Shwachman-Diamond syndrome confirmed? 

Our Answer

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

How is Shwachman-Diamond syndrome diagnosed?

The diagnosis of Shwachman-Diamond syndrome relies on clinical findings, including pancreatic dysfunction and characteristic hematologic abnormalities.[1] In addition to a complete history and physical examination, other diagnostic tests may be used to aid in the diagnosis of this condition. Blood work may be performed to evaluate the white blood cells, red blood cells, and platelets under a microscope. Blood testing may also evaluate the function of the kidney, liver, and pancreas. Studies such as pancreatic stimulation testing and stool collection may also be performed. A Skeletal Survey may be done to evaluate the bones of the body. In addition, samples of bone marrow may be taken to examine blood cell lines (red cells, white cells, and platelets), genetic make up of the bone marrow, and the physical architecture of the bone marrow.[2]

Variation in severity and clinical manifestations may complicate the ability to establish a definitive diagnosis. Genetic testing may be used to confirm the diagnosis.[1] 

More details regarding the diagnosis of Shwachman-Diamond syndrome can be obtained from the GeneReviews report on this condition.
Last updated: 9/16/2010

Is genetic testing available for Shwachman-Diamond syndrome? 

Yes, genetic testing is available for SBDS, the gene known to cause most cases of Shwachman-Diamond syndrome (SDS).[3] Carrier testing for at-risk relatives and prenatal testing are possible if both disease-causing changes (mutations) in the family are known.

In less than 10% of people with SDS, no mutation in the SBDS gene is identified.[3] The exact underlying cause of the condition in these cases is unknown. Genetic testing is not an option for these families.
Last updated: 2/16/2015

References
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.