Mondo Description Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
Disease Ontology Description A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.