Fechtner syndrome (Q68131)

Fechtner syndrome is one of the MYH9 syndromes (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly and Sebastian and Epstein syndromes) which are characterised by a macrothrombocytopenia that is usually severe but paradoxically results in few if any symptoms. Macrothrombocytopenia is defined by the presence of giant platelets, with a diameter equal or superior to the diameter of a red cell. Fechtner syndrome inconstantly associates renal involvement (interstitial glomerulonephritis), sensorineural deafness (especially in the high frequency range), and cataract (potentially bilateral).