Fechtner syndrome (Q68131)
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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).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1993570575 |
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| English | Fechtner syndrome |
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). |
