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Bernard Soulier syndrome

Abstract

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NORD is very grateful to Irene Roberts, MD, Professor of Paediatric Haematology at Imperial College, London, for assistance in the preparation of this report.

Synonyms of Bernard Soulier syndrome

  • BSS
  • giant platelet syndrome
  • hemorrhagiparous thrombocytic dystrophy
  • hereditary platelet disorder
  • macrothrombocytopenia, familial Bernard-Soulier type
  • platelet glycoprotein Ib deficiency
  • Von Willebrand factor receptor deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation) characterized by unusually large platelets, low platelet count (thrombocytopenia) and prolonged bleeding time (difficulty in clotting). Affected individuals tend to bleed excessively and bruise easily. Most cases of Bernard-Soulier syndrome are inherited as an autosomal recessive genetic trait.

Organizations related to Bernard Soulier syndrome

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