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Fechtner syndrome
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Fechtner syndrome

Other Resources UpToDate PubMed

Synopsis

An autosomal dominant inherited condition due to MYH9 gene mutation which presents as congenital thrombocytopenia, giant platelets, and abnormal peripheral blood leukocytes. Most common eye and hearing abnormalities are eye opacities, such as congenital cataracts, and high-tone sensorineural deafness. Increased liver enzymes are an indication of nephritis. Other signs and symptoms may include ecchymoses, menorrhagia, hemorrhage, hematuria, proteinuria, and blue cytoplasmic inclusions in eosinophils and neutrophils. Patients with the MYH9 gene mutation appear to be at greater risk for mild bleeding.

Codes

ICD10CM:
Q87.81 – Alport syndrome

SNOMEDCT:
236422008 – Fechtner Syndrome

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References

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Last Updated:01/16/2022
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Fechtner syndrome
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A medical illustration showing key findings of Fechtner syndrome : Cataract, PLT decreased
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