BOR syndrome

Introduction: BOR syndrome

Description of BOR syndrome

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

See also:

BOR syndrome:
  »Introduction: BOR syndrome
  »Symptoms of BOR syndrome

BOR syndrome: SYN: branchio-oto-renal syndrome.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.

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: Related Topics

These medical condition or symptom topics may be relevant to medical information for BOR syndrome:

• BOR

BOR syndrome: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list BOR syndrome as a "rare disease".

Source - Orphanet

BOR syndrome as a Disease

BOR syndrome (medical condition): See BOR syndrome (disease information).
  »Introduction: BOR syndrome
  »Symptoms of BOR syndrome

More information on medical condition: BOR syndrome:

• Information about BOR syndrome
• Basic Summary for BOR syndrome
• Symptoms of BOR syndrome
• Complications of BOR syndrome

Terms associated with BOR syndrome:

Terms Similar to BOR syndrome:

• Branchio-oto-renal syndrome
• Branchiootorenal dysplasia
• Melnick-Fraser syndrome

Source: Diseases Database

• Branchiootorenal dysplasia
• Melnick-Fraser syndrome
• Branchiootorenal syndrome

Source - NIH

External links related to: BOR syndrome

• OMIM - BRANCHIOOTORENAL DYSPLASIA
• GeneReviews: Branchiootorenal Syndrome
• Melnick-Fraser syndrome I (www.whonamedit.com)

Source: Diseases Database

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Medical dictionaries:

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• Medical Acronymns/Abbreviations

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Neurologic-spinal fluid dissociation syndrome

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