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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

Término preferido

Branchio-Oto-Renal Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • 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)

Concepto genérico

Etiquetas alternativas

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

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-DZD0TKDJ-5

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RDF/XML TURTLE JSON-LD Creado 10/6/96, última modificación 17/5/19