Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Bernard Soulier Syndrome


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



    General Discussion
    Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation) characterized by unusually large and irregularly shaped 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
    • Bernard-Soulier Syndrome Website and Registry
      Royal College of Surgeons in Ireland
      Dublin 2 Intl None
      Phone #: 353--1--4022100
      800 #: N/A
      e-mail: bernard-soulier@rcsi.ie
      Home page: http://www.bernardsoulier.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Heart, Lung and Blood Institute Information Center
      P.O. Box 30105
      Bethesda MD 20824-0105
      Phone #: 301-592-8573
      800 #: --
      e-mail: nhlbiinfo@rover.nhlbi.nih.gov
      Home page: N/A



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html