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Diseases » BOR syndrome » Summary
 

What is BOR syndrome?

What is BOR syndrome?

  • BOR syndrome: A rare genetic disorder characterized by hearing loss, kidney malformations and branchial arch anomalies. There are two subtypes with different genetic defect origins.
  • BOR 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

BOR syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that BOR syndrome, or a subtype of BOR 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 BOR syndrome as a "rare disease".
Source - Orphanet

BOR syndrome: Introduction

Types of BOR syndrome:

Broader types of BOR syndrome:

How serious is BOR syndrome?

Complications of BOR syndrome: see complications of BOR syndrome

What causes BOR syndrome?

Causes of BOR syndrome: see causes of BOR syndrome

What are the symptoms of BOR syndrome?

Symptoms of BOR syndrome: see symptoms of BOR syndrome

Complications of BOR syndrome: see complications of BOR syndrome

BOR syndrome: Testing

Diagnostic testing: see tests for BOR syndrome.

Misdiagnosis: see misdiagnosis and BOR syndrome.

How is it treated?

Doctors and Medical Specialists for BOR syndrome: Medical Geneticist ; see also doctors and medical specialists for BOR syndrome.
Treatments for BOR syndrome: see treatments for BOR syndrome
Research for BOR syndrome: see research for BOR syndrome

Name and Aliases of BOR syndrome

Main name of condition: BOR syndrome

Other names or spellings for BOR syndrome:

Branchio-oto-renal syndrome, Branchiootorenal dysplasia, Melnick-Fraser syndrome Source - Diseases Database

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

 

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