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

Preferred term

Branchio-Oto-Renal Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • BOR Syndrome
  • Branchio-Otorenal Dysplasia
  • Branchiootorenal Dysplasia
  • Branchio-Otorenal Syndrome
  • Dysplasia, Branchiootorenal
  • Melnick Fraser Syndrome
  • Melnick-Fraser Syndrome

Scope note

  • 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)

History note

  • 97

In other languages

URI

http://www.yso.fi/onto/mesh/D019280

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