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BOR syndrome

BOR syndrome: Introduction

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. More detailed information about the symptoms, causes, and treatments of BOR syndrome is available below.

Symptoms of BOR syndrome

Home Diagnostic Testing

Home medical testing related to BOR syndrome:

Wrongly Diagnosed with BOR syndrome?

BOR syndrome: Complications

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Causes of BOR syndrome

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Less Common Symptoms of BOR syndrome

BOR syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and BOR syndrome

Interstitial cystitis an under-diagnosed bladder condition: The medical condition of interstitial cystitic is a bladder condition that can be misdiagnosed as more »

BOR syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Hospitals & Clinics: BOR syndrome

Research quality ratings and patient safety measures for medical facilities in specialties related to BOR syndrome:

Choosing the Best Hospital: More general information, not necessarily in relation to BOR syndrome, on hospital performance and surgical care quality:

Evidence Based Medicine Research for BOR syndrome

Medical research articles related to BOR syndrome include:

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BOR syndrome: Animations

Research about BOR syndrome

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Statistics for BOR syndrome

BOR syndrome: Broader Related Topics

User Interactive Forums

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Definitions of 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


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