Shwachman-Diamond syndrome (SDS) is an autosomal recessive marrow failure syndrome
associated with exocrine pancreatic insufficiency and leukemia predisposition. Bone marrow
failure typically manifests with neutropenia, but anemia, thrombocytopenia, or aplastic
anemia may also develop. Additional organ systems, such as liver or bone, may also be
affected. Clonal cytogenetic abnormalities, particularly those involving chromosome 7 such
as monosomy 7 or isochromosome 7, may develop. Mutations in the SBDS gene are found …