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Branchio-oto-renal syndrome
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Branchio-oto-renal syndrome

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Synopsis

Congenital condition in which abnormal development of the second branchial arch causes neck, ear, and renal abnormalities. Most patients present with hearing loss and ear abnormalities such as preauricular pits or tags. Hearing loss may remain the same or progressively worsen. Often, affected patients will have branchial cleft cysts, sometimes with fistulae. Occasionally, patients will have kidney dysfunction. Caused by autosomal dominant inheritance of a mutation in the genes EYA1, SIX1, and SIX5. Treatment is symptomatic.

For more information, see OMIM.

Codes

ICD10CM:
Q89.8 – Other specified congenital malformations

SNOMEDCT:
290006 –  Melnick-Fraser syndrome

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Last Updated: 03/29/2017
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Branchio-oto-renal syndrome
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Branchio-oto-renal syndrome : Hearing loss, Neck mass, Preauricular pits
Copyright © 2019 VisualDx®. All rights reserved.