Branchio-oto-renal syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]

Synonyms and keywords:

Overview

Branchio-oto-renal syndrome (also known as branciootorenal syndrome, BOR syndrome or BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck.

Pathophysiology

BOR results from the mutation of the EYA1 gene.

Branchio-oto-renal syndrome has an autosomal dominant pattern of inheritance.

Diagnosis

History and Symptoms

Individuals with BOR may have underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.

Ear anomalies include extra openings in front of the ears (preauricular pits), extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible. Individuals can have mild to profound hearing loss, which can either be sensorineural, conductive, or mixed. People with BOR may also have cysts or fistulae along the sides of their neck corresponding to the location of the embryologic brancial clefts.