Branchio-oto-renal dysplasia

Branchio-oto-renal (BOR) dysplasia is a rare syndromic disorder characterised by:

  • otic malformations
    • can involve the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment
    • preauricular pits
  • branchial fistulae and branchial cleft cysts
  • renal malformations: can range from mild renal hypoplasia to bilateral renal agenesis

Pathology

Genetics

It carries an autosomal dominant inheritance. Most families with the BOR syndrome have mutations on the EYA-1 gene on chromosome 8q.

Prognosis

Some individuals progress to end-stage renal disease (ESRD) later in life.

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Article information

rID: 15729
Synonyms or Alternate Spellings:
  • Branchio oto renal dysplasia (BOR) syndrome
  • BOR syndrome
  • BOR dysplasia
  • Branchio oto renal syndrome

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