Congenital thrombocytopenia, giant platelets, and Döhle-like bodies in granulocytes characterize MYH9-related disease (MYH9-RD). Clinical manifestations include deafness, nephritis, and cataracts [1,2]. Prior to identifying the underlying genetic cause, MYH9-RD had been grouped into different subtypes according to their different clinical presentations, i.e., May-Hegglin anomaly, Sebastian platelet syndrome, Fechtner syndrome, and Epstein syndrome (in order of increasing seriousness of nonhematologic manifestations) [2].
