/Bernard-Soulier syndrome

Bernard-Soulier syndrome

Rare Disease

MONDO:0009276

Also Known As

Bernard - Soulier thrombopathyBernard Soulier syndromeBernard-Soulier syndromeBernard-Soulier syndrome, type A1 (recessive)Hemorrhagiparous thrombocytic dystrophygiant platelet disorder, isolatedgiant platelet syndromehemorrhagic dystrophic thrombocytopeniathrombopathy, Bernard-SoulierBSSBernard-Soulier syndrome, type A1Bernard-Soulier syndrome, type BBernard-Soulier syndrome, type CPlatelet glycoprotein 1b, deficiency ofPlatelet glycoprotein Ib deficiencyVon Willebrand Factor receptor deficiencybleeding disorder, Platelet-type, 1deficiency of platelet glycoprotein 1bgiant platelet diseaseglycoprotein Ib, Platelet, deficiency ofmacrothrombocytopenia, familial Bernard-Soulier type

Definition

Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.