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Shwachman-Diamond syndrome

Disease definition

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

ORPHA:811

  • Synonym(s):
    • Pancreatic insufficiency and bone marrow dysfunction
    • SDS
    • Shwachman syndrome
    • Shwachman-Bodian-Diamond syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy, Childhood
  • ICD-10: D61.0
  • OMIM: 260400
  • UMLS: -
  • MeSH: -
  • GARD: 4863
  • MedDRA: 10067940

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