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What is Branchio-Oto-Renal Syndrome?

What is Branchio-Oto-Renal Syndrome?

  • Branchio-Oto-Renal Syndrome: Autosomal dominant genetic disorder involving kidneys, ears and neck.
  • Branchio-Oto-Renal Syndrome: An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
    Source - Diseases Database

Branchio-Oto-Renal Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Branchio-Oto-Renal Syndrome, or a subtype of Branchio-Oto-Renal Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Branchio-Oto-Renal Syndrome as a "rare disease".
Source - Orphanet

Branchio-Oto-Renal Syndrome: Introduction

How serious is Branchio-Oto-Renal Syndrome?

Complications of Branchio-Oto-Renal Syndrome: see complications of Branchio-Oto-Renal Syndrome

What are the symptoms of Branchio-Oto-Renal Syndrome?

Complications of Branchio-Oto-Renal Syndrome: see complications of Branchio-Oto-Renal Syndrome

Branchio-Oto-Renal Syndrome: Testing

Diagnostic testing: see tests for Branchio-Oto-Renal Syndrome.

Misdiagnosis: see misdiagnosis and Branchio-Oto-Renal Syndrome.

How is it treated?

Treatments for Branchio-Oto-Renal Syndrome: see treatments for Branchio-Oto-Renal Syndrome
Research for Branchio-Oto-Renal Syndrome: see research for Branchio-Oto-Renal Syndrome

Name and Aliases of Branchio-Oto-Renal Syndrome

Main name of condition: Branchio-Oto-Renal Syndrome

Other names or spellings for Branchio-Oto-Renal Syndrome:

Branchiootorenal dysplasia, Melnick-Fraser syndrome, BOR syndrome Source - Diseases Database

BOR syndrome, Branchiootorenal dysplasia, Melnick-Fraser syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Research the causes of these diseases that are similar to, or related to, Branchio-Oto-Renal Syndrome:


 » Next page: Prevalence and Incidence of Branchio-Oto-Renal Syndrome

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