Shwachman-Diamond Syndrome

Shwachman-Diamonds syndrom

Engelsk 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.

Svenska synonymer

Shwachman syndrom Shwachman-Bodian-Diamonds syndrom

Engelska synonymer

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