Shwachman-diamond syndrome

Abstract

Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome classically characterized by neutropenia and exocrine pancreatic dysfunction along with a substantial risk of aplastic anemia and malignant transformation. Many additional organ systems are affected including the pancreas, skeletal, liver, central nervous systems, and others. The majority of affected individuals carry biallelic mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. SBDS functions in ribosomal biogenesis as well as other cellular processes. In this chapter we will summarize clinical manifestations of SDS and diagnostic and treatment approaches, as well as highlight novel advances in the understanding of the molecular pathogenesis of SDS.