Branchio-oto-renal syndrome

Also known as: BOR syndrome; Melnick–Fraser syndrome

Branchial arch anomalies, hearing loss and renal malformations.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: EYA1, SIX1, SIX5

Etiology & mechanism

EYA1 and SIX gene haploinsufficiency.

Gene(s) involved (3)

EYA1SIX1SIX5

Symptoms & signs (6)

branchial cystshearing losspreauricular pitsrenal agenesisrenal dysplasiavesicoureteral reflux

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