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Copyright 1986, 1987, 1988, 1990, 1994, 2004, 2007, 2009
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
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.
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Organizations related to Bernard Soulier Syndrome
- Bernard-Soulier Syndrome Website and Registry
Royal College of Surgeons in Ireland
123 St. Stephen's Green
Dublin 2 Intl None
Phone #: 353--1--4022100
800 #: N/A
e-mail: bernard-soulier@rcsi.ie
Home page: http://www.bernardsoulier.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
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
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