Alternative titles and symbols : Shwachman-bodian syndrome; SDS; Shwachman-diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Lipomatosis of pancreas, congenital;
Description : Shwachman-Diamond syndrome is characterized primarily by exocrine pancreatic insufficiency,
hematologic abnormalities, including increased risk of malignant transformation, and
skeletal abnormalities. For a review of Shwachman-Diamond syndrome, see Dror and Freedman
(2002).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the SBDS gene (SBDS, 607444.0001);