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Condition report · Otolaryngological

Branchio-Oto-Renal Syndrome

Branchio-oto-renal spectrum disorder is an inherited condition affecting the ears, neck and sometimes the kidneys. Hearing loss is common and kidney differences can range from none to significant.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal dominant

A dominant condition, mainly caused by changes in EYA1, SIX1 or SIX5, that causes conductive, sensorineural or mixed hearing loss, ear malformations, neck cysts or pits and, in some people, kidney anomalies.

What a diagnosis changes

Knowing about it prompts hearing assessment and kidney ultrasound surveillance, and informs family counselling.

Genes analysed

Also known as

Branchio oto renal syndrome; branchiootorenal syndrome; Melnick-Fraser syndrome

Includes 2 related subtypes ↓
  • branchiootorenal syndrome 1
  • branchiootorenal syndrome 2
MONDO:0007029Orphanet 107MedGen 82693

Limitations

  • A substantial share of cases (around one in five) are caused by deletions or complex rearrangements of EYA1, which need copy-number and structural-variant analysis and may be missed.

Other otolaryngological conditions

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