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Branchiootorenal syndrome
Introduction: Branchiootorenal syndrome
Description of Branchiootorenal syndrome
Branchiootorenal syndrome (medical condition):
Autosomal dominant genetic disorder involving kidneys, ears and neck.
See also Branchio-Oto-Renal Syndrome:
»Introduction: Branchio-Oto-Renal Syndrome
Branchiootorenal 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
Branchiootorenal 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: MeSH 2007
Branchiootorenal syndrome: Rare Disease
Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
Branchiootorenal syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Branchiootorenal syndrome, or a subtype of Branchiootorenal 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 Branchiootorenal syndrome as a "rare disease".
Source - Orphanet
Branchiootorenal syndrome as a Disease
Branchiootorenal syndrome (medical condition): See Branchio-Oto-Renal Syndrome (disease information).
»Introduction: Branchio-Oto-Renal Syndrome
More information on medical condition: Branchio-Oto-Renal Syndrome:
Terms associated with Branchiootorenal syndrome:
Terms Similar to Branchiootorenal syndrome:
Source: Diseases Database
Source - NIH
Source - MeSH 2007
Broader terms for Branchiootorenal syndrome
Source - MeSH 2007
Hierarchical classifications of Branchiootorenal syndrome
The following list attempts to classify Branchiootorenal syndrome into categories where each line is subset of the next.
MeSH 2007 Hierarchy:
MeSH 2007 Hierarchy
MeSH 2007 Hierarchy
External links related to: Branchiootorenal syndrome
- OMIM - BRANCHIOOTORENAL DYSPLASIA
- GeneReviews: Branchiootorenal Syndrome
- Melnick-Fraser syndrome I (www.whonamedit.com)
Source: Diseases Database
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