Diseases

Branchio-Oto-Renal 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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

Classification

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MeSH Record

Synonyms

21 entry terms
  • BOR Syndrome
  • Branchio-Otorenal Dysplasia
  • Branchio-Otorenal Syndrome
  • Branchiootorenal Dysplasia
  • Melnick-Fraser Syndrome
  • Branchio Oto Renal Syndrome
  • Dysplasia, Branchiootorenal
  • Melnick Fraser Syndrome
  • BOF Syndrome
  • Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging
  • Branchio-Oculo-Facial Syndrome
  • Branchiooculofacial Syndrome
  • Branchiootorenal Syndrome 1
  • Branchiootorenal Syndrome 2
  • Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
  • Lee Root Fenske Syndrome
  • Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
  • Branchio Oculo Facial Syndrome
  • Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome
  • Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome
  • Syndrome, BOF

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

97

MeSH Record

Previous Indexing

  • Abnormalities, Multiple (1966-1996)
  • Chromosome Abnormalities (1966-1996)

MeSH Hierarchy

Tree Numbers

AMA Style

References

  1. National Library of Medicine. Branchio-Oto-Renal Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D019280. http://id.nlm.nih.gov/mesh/2026/D019280
  2. Branchio-Oto-Renal Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Branchio-oto-renal_syndrome
  3. Branchio-Oto-Renal Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q2280106