Fechtner syndrome (Q68131): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Síndrome de Fechtner é uma das síndromes MYH9 (um grupo que inclui quatro formas clínicas com manifestações semelhantes resultantes de mutações no gene MYH9: anomalia de May-Hegglin e síndromes de Sebastian e Epstein) que são caracterizadas por uma macrotrombocitopenia que geralmente é grave mas paradoxalmente resulta em poucos ou nenhum sintoma. A macrotrombocitopenia é definida pela presença de plaquetas gigantes, com diâmetro igual ou superior ao diâmetro de uma hemácia. A síndrome de Fechtner associa de forma inconstante comprometimento renal (glomerulonefrite intersticial), surdez neurossensorial (especialmente na faixa de alta frequência) e catarata (potencialmente bilateral).
@@ description / en / description / en @@
+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).
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Latest revision as of 15:59, 14 August 2026

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
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).