Shwachman-Diamond Syndrome

**Definition:** An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome.

**Tree numbers:** - C06.689.276.500 - C15.378.190.223.500.875 - C18.452.584.563.824 - C18.452.584.718.875

**Synonyms:** - Shwachman Syndrome - Pancreatic Insufficiency and Bone Marrow Dysfunction - Shwachman-Bodian Syndrome - Congenital Lipomatosis of Pancreas - Metaphyseal Chondrodysplasia, Shwachman Type - Shwachman-Bodian-Diamond Syndrome - Shwachman Diamond Syndrome - Shwachman-Diamond-Oski Syndrome