Fechtner syndrome
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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:
712922002 – Myosin heavy chain 9 non muscle related disease
Q87.81 – Alport syndrome
SNOMEDCT:
712922002 – Myosin heavy chain 9 non muscle related disease
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Last Updated:01/16/2022
Fechtner syndrome