Bernard-Soulier syndrome

Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. In affected individuals, platelets are unusually large and fewer in number than usual (a combination known as macrothrombocytopenia). People with Bernard-Soulier syndrome tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or prolonged bleeding following minor injury or surgery or even without trauma (spontaneous bleeding). Rarely, bleeding under the skin causes tiny red or purple spots on the skin called petechiae. Women with Bernard-Soulier syndrome often have heavy or prolonged menstrual bleeding (menorrhagia).

Other names

BDPLT1; Bleeding disorder, platelet-type, 1; BSS; Deficiency of platelet glycoprotein 1b; Giant platelet syndrome; Glycoprotein Ib, platelet, deficiency of; Hemorrhagioparous thrombocytic dystrophy; Macrothrombocytopenia, familial Bernard-Soulier type; Platelet glycoprotein Ib deficiency; Von Willebrand factor receptor deficiency

Inheritance pattern

Autosomal recessive; Autosomal dominant

Related genes

GP1BA; GP1BB; GP9

Source: MedlinePlus Genetics, U.S. National Library of Medicine.