Shwachman-Diamond syndrome (SDS) is an AR disorder due to SBDS pathogenic variants and is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure, hematologic abnormalities with single- or multilineage cytopenia and susceptibility to myelodysplasia syndrome and acute myelogeneous leukemia, and bone abnormalities. Here, SBDS is linked to Shwachman-Diamond syndrome.