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Shwachman-Diamond syndrome

Zora R Rogers, MD
Section Editors
Donald H Mahoney, Jr, MD
Melvin B Heyman, MD, MPH
Deputy Editor
Alan G Rosmarin, MD


Shwachman-Diamond syndrome (SDS, also known as Shwachman-Bodian-Diamond syndrome, Shwachman-Diamond-Oski syndrome, or Shwachman syndrome) is a rare inherited disorder associated with neutropenia that may progress to bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities that generally presents in infancy. Advances in understanding the genetics, pathophysiology, and natural history of the disease since its initial description in the early 1960s have made the importance of accurate diagnosis and management of this disorder more compelling.

This topic review discusses the pathophysiology, clinical manifestations, diagnosis, and clinical management of SDS.

Other inherited bone marrow failure syndromes, and an approach to the evaluation of patients with bone marrow failure, are discussed in separate topic reviews:

(See "Congenital neutropenia".)

(See "Aplastic anemia: Pathogenesis, clinical manifestations, and diagnosis".)

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Literature review current through: Nov 2017. | This topic last updated: Apr 04, 2016.
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