The Branchio-Oto-Renal Syndrome (BOR, Melnick-Fraser Syndrome) is a rare genetic syndrome with anomalies affecting the branchial arch, kidneys and auditory system.


Estimated frequency: 1 in 40,000


Inheritance: autosomal dominant with high penetrance but variable expression


Mutated Gene: EYA1 on 8q13.3, possibly others


Characteristic clinical features:

(1) loss of hearing (may be sensorineural, conductive or mixed)

(2) malformations of the inner, middle and/or outer ear, including preauricular pits or tags

(3) cleft, sinus or cyst affecting the second branchial arch

(4) renal anomalies (agenesis, dysplasia, hypoplasia, minor defects)


Additional clinical findings may include:

(1) facial and/or dental abnormalities

(2) abnormalities of the palate

(3) lacrimal duct aplasia or stenosis


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