What is Shwachman-Diamond syndrome (SDS)?

Updated: Nov 17, 2020
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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Answer

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. [1, 2, 3] Diagnosis of the condition requires the presence of exocrine pancreatic insufficiency and bone marrow dysfunction; skeletal abnormalities and gene mutations are not a requirement to confirm the diagnosis. The goals of Shwachman-Diamond syndrome (SDS) treatment include (1) pancreatic enzyme supplementation, (2) prevention or treatment of serious and/or invasive infections with early attention to febrile illnesses, (3) correction of hematologic abnormalities when possible, and (4) prevention of orthopedic deformities. [4]

SDS is the second most common cause of inherited pancreatic insufficiency after cystic fibrosis and the third most common inherited bone marrow failure syndrome after Fanconi anemia and Diamond-Blackfan anemia. In 90% of cases, SDS is associated with mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene, located on chromosome 7.

In 1964, Shwachman, Diamond, Oski, and Knaw first reported the syndrome in a group of five children participating in a cystic fibrosis (CF) clinic at Harvard Medical School.


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