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
See full list of 20
symptoms of BOR syndrome
Home Diagnostic Testing
Home medical testing related to BOR syndrome:
- Bladder & Urinary Health: Home Testing:
Wrongly Diagnosed with BOR syndrome?
BOR syndrome: Complications
Review possible medical complications related to BOR syndrome:
Causes of BOR syndrome
Read more about causes of BOR syndrome.
Less Common Symptoms of BOR syndrome
See full list of 7
occasional 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 various conditions such as overactive bladder or other causes of pelvic...read more »
Read more about Misdiagnosis and BOR syndrome
BOR syndrome: Research Doctors & Specialists
Research related physicians and medical specialists:
- Ear, Nose & Throat Specialists:
- Urinary & Bladder Specialists (Urology):
- Kidney Health Specialists (Nephrology):
- more specialists...»
Other doctor, physician and specialist research services:
Hospitals & Clinics: BOR syndrome
Research quality ratings and patient safety measures
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Hospital & Clinic quality ratings »
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:
Click here to find more evidence-based articles on the TRIP Database
BOR syndrome: Animations
More BOR syndrome animations & videos
Research about BOR syndrome
Visit our research pages for current research about BOR syndrome treatments.
Statistics for BOR syndrome
BOR syndrome: Broader Related Topics
Types of BOR syndrome
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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