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:

• Information about Branchio-Oto-Renal Syndrome
• Basic Summary for Branchio-Oto-Renal Syndrome

Terms associated with Branchiootorenal syndrome:

Terms Similar to Branchiootorenal syndrome:

• Branchiootorenal dysplasia
• Melnick-Fraser syndrome
• BOR syndrome

Source: Diseases Database

• BOR syndrome
• Branchiootorenal dysplasia
• Melnick-Fraser syndrome

Source - NIH

• BOR Syndrome
• Branchio-Oculo-Facial Syndrome
• Branchio-Otorenal Dysplasia

Source - MeSH 2007

Broader terms for Branchiootorenal syndrome

• Abnormalities, Multiple
• Chromosome Disorders

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:

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Abnormalities
    • Abnormalities, Multiple
      • Branchio-Oto-Renal Syndrome

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Abnormalities
    • Chromosome Disorders
      • Branchio-Oto-Renal Syndrome

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Genetic Diseases, Inborn
    • Chromosome Disorders
      • Branchio-Oto-Renal Syndrome

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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• Medical dictionary,
• Medical Acronymns/Abbreviations

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