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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

Classification level: Disorder
  • 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  617941
  • UMLS: C0272170
  • MeSH: -
  • GARD: 4863
  • MedDRA: 10067940

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.