Bernard-Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy, is an autosomal recessive bleeding disorder that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor which is important in clot formation.
It presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury.
The syndrome is named after Dr. Jean Bernard
and Jean Pierre Soulier
There are three forms:
- De Marco L, Mazzucato M, Fabris F, et al (1990). "Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex". J. Clin. Invest. 86 (1): 25–31.