Fact-sheet: Branchio-oto-renal syndrom


Updated on 03/25/2020 at 2:05 PM

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Definition

Autosomal dominant genetic disease combining

  • branchial arch anomalies (branchial clefts, fistulas, or cysts),
  • hearing anomalies (malformation of the ear pinna with preauricular pits, conductive or sensorineural hearing loss)
  • and renal anomalies (malformation of the urinary tract, renal hypoplasia or agenesis, renal dysplasia, renal cysts).