Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.

Also known as: Epstein syndrome, Fechtner syndrome, MYH9-RD, MYH9-related disease, MYH9-related disorder, MYH9-related syndrome, MYH9-related syndromic thrombocytopenia, May-Hegglin anomaly

46 clinical trials for this condition and its sub-types.