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Shwachman syndrome

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Description

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.

GeneReviews

  • Mode of Inheritance

    VARIANTS

    1

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    Genes

    External Links

    • OMIM
    • Orphanet

      811

    • HPO
    • Medgen

      C0272170

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