Orphanet: Bernard Soulier syndrome

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Bernard-Soulier syndrome

Disease definition

Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.


Classification level: Disorder
  • Synonym(s):
    • Giant platelet syndrome
    • Hemorrhagiparous thrombocytic dystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D69.1
  • OMIM: 153670  231200
  • UMLS: C0005129
  • MeSH: D001606
  • GARD: 2470
  • MedDRA: 10057473

Detailed information


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