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Disease Branchio-Oto-Renal Syndrome

Name Branchio-Oto-Renal Syndrome
Synonyms BOFS | BOF Syndrome | BOR1 | BOR2 | BOR Syndrome | Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging | Branchiooculofacial Syndrome | Branchio Oculo Facial Syndrome | Branchio-Oculo-Facial Syndrome | Branchiootorenal Dysplasia | Branchio-Otorenal Dysplasia | Branchio-Otorenal Syndrome | Branchio Oto Renal Syndrome | Branchiootorenal Syndrome 1 | Branchiootorenal Syndrome 2 | Dysplasia, Branchiootorenal | Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome | Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome | Lee Root Fenske Syndrome | Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome | Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome | Melnick Fraser Syndrome | Melnick-Fraser Syndrome | Syndrome, BOF | Syndrome, BOR | Syndrome, Branchiooculofacial | Syndrome, Branchio-Oculo-Facial | Syndrome, Branchio-Oto-Renal | Syndrome, Melnick-Fraser
Definition 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)
Categories Congenital abnormality | Genetic disease (inborn)
MeSH® ID D019280
OMIM® IDs 113620 | 113650 | 610896
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Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Branchio-Oto-Renal Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Branchio-Oto-Renal Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Branchio-Oto-Renal Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Branchio-Oto-Renal Syndrome Has associated chemicals Has associated genes
  Bor-Duane hydrocephalus contiguous gene syndrome
  Branchiootic syndrome Has associated chemicals Has associated genes
  Branchiootic Syndrome 2
  Branchiootic Syndrome 3 Has associated chemicals Has associated genes
  Otofaciocervical Syndrome Has associated chemicals Has associated genes