Epstein syndrome (Q96603)

Epstein syndrome is one form of the ``MYH9 syndrome'' (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome), characterised by usually severe macrothrombocytopenia but paradoxically resulting in few if any symptoms. Macrothrombocytopenia is defined as the presence of giant platelets, with a diameter equal to or greater than that of a red blood cell. Epstein syndrome clinically resembles Fechtner syndrome (renal involvement marked by interstitial glomerulonephritis and sensorineural deafness associated with thrombopenia), but it can be distinguished by the absence of cataract.