Disease or Syndrome
Shwachman syndrome
[ shwak-mun sin-drome ]
Subclass of:
Congenital Bone Marrow Failure Syndromes;
Exocrine pancreatic insufficiency;
Lipid Metabolism, Inborn Errors;
Lipomatosis
Definitions related to shwachman syndrome:
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A rare, inherited disorder in which the pancreas and bone marrow do not work the way they should. Symptoms include problems digesting food, a low number of neutrophils (a type of white blood cell), bone problems, and being short. Infants with the disorder get bacterial infections and are at an increased risk of aplastic anemia, myelodysplastic syndrome, and leukemia.NCI Dictionary of Cancer TermsU.S. National Cancer Institute, 2021
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Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common.GeneReviewsUniversity of Washington, 2021
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(shwachman-diamond syndrome) A rare, autosomal recessive disorder characterized by exocrine pancreas insufficiency, skeletal abnormalities, bone marrow dysfunction, and an increased incidence of leukemia.NCI ThesaurusU.S. National Cancer Institute, 2021
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(shwachman-diamond syndrome) 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.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition, and skeletal abnormalities. In 1964, Shwachman, Diamond, Oski, and Knaw first reported the syndrome in a group of 5 children participating in a cystic fibrosis (CF)...WebMD, 2019
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Shwachman-Diamond syndrome (SDS) affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. Symptoms include the inability to digest food due to missing digestive enzymes, low muscle tone, and anemia. Other symptoms include skeletal findings and intellectual disability. Children with SDS may have feeding...National Center for Advancing Translational Sciences
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