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A child with hearing loss is noted to have preauricular pits, branchial cleft cysts, and cupped ears. Renal ultrasound reveals bilateral renal hypoplasia.
AD; EYA1 (most common), SIX1, SIX5
- Branchial: branchial cleft cysts/fistulae
- Oto: hearing loss (mixed, conductive, or sensorineural), preauricular pits, ear malformations
- Renal: renal anomalies (hypoplasia, dysplasia, agenesis) - variable
- Clinical criteria + genetic testing
- Hearing rehabilitation: hearing aids or cochlear implants based on type and severity
- Renal ultrasound at diagnosis; ongoing nephrology surveillance for progressive disease, including referral for renal replacement if renal failure develops
- Surgical management of branchial fistulae/cysts as needed
- Audiologic monitoring and developmental/educational support
"Aurora BOR-EYA-liS": The genes are EYA1 and SIX1: think "Aurora BOR-EYA-liS" (as in the northern lights). You tilt your neck up to view the aurora, exposing branchial cleft cysts