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Branchio-oto-renal dysplasia

Branchio-oto-renal (BOR) dysplasiasyndrome, or spectrum disorder is a rare syndromic disorder characterized by cervical branchial apparatus anomalies, ear malformations, and renal anomalies. If there are no renal anomalies, then it is more likely to be branchiootic dysplasia.

When family history is absent, the diagnosis is established by 3 major criteria, or 2 major and 2 minor criteria 6. An affected individual with an affected first-degree relative only needs to meet one major criterion 6.

Major criteria, with examples 6-8:

Minor criteria, with examples 6-8:

It carries an autosomal dominant inheritance. Most families with the branchio-oto-renal syndrome have mutations of the EYA1 gene, found on chromosome 8q.

Specific features on temporal bone CT include the following:

  • "unwound cochlea," where the middle and apical turns are anteromedially rotated and displaced away from the basal turn 8
  • medialized course of facial nerve (medial to cochlea) 9

Various additional findings on temporal bone CT are common 8,9:

  • cochlear apical turn hypoplasia
  • deficiency of the modiolus
  • funnel-shaped internal auditory canal
  • patulous Eustachian tube

Some individuals progress to end stage renal failure (ESRF) later in life.

Article information

rID: 15729
Section: Syndromes
Synonyms or Alternate Spellings:
  • Branchio-oto-renal syndrome
  • Branchiootorenal spectrum disorder
  • Branchio oto renal dysplasia (BOR) syndrome
  • BOR syndrome
  • BOR dysplasia
  • Branchio oto renal syndrome

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