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.
Shwachman syndrom — Shwachman-Bodian-Diamonds syndrom
Shwachman Syndrome — Pancreatic Insufficiency and Bone Marrow Dysfunction — Shwachman-Diamond-Oski Syndrome — Shwachman Diamond Oski Syndrome — Congenital Lipomatosis of Pancreas — Pancreas Congenital Lipomatoses — Pancreas Congenital Lipomatosis — Metaphyseal Chondrodysplasia, Shwachman Type — Shwachman-Bodian-Diamond Syndrome — Shwachman Bodian Diamond Syndrome — Shwachman Diamond Syndrome — Shwachman-Bodian Syndrome — Shwachman Bodian Syndrome