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Up to: Syndromic disease · Inherited bleeding disorder, platelet-type · Syndromic constitutional thrombocytopenia
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.
This condition has no sub-types.