Bernard-Soulier syndrome
Bernard-Soulier syndrome
Definition
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
Also known as Bernard-Soulier syndrome, Bernard-Soulier syndrome, type A1 (recessive), giant platelet disorder, isolated, giant platelet syndrome, Hemorrhagiparous thrombocytic dystrophy — per MONDO