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BOR syndrome

Disease definition

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

ORPHA:107

Classification level: Disorder
  • Synonym(s):
    • Branchiootorenal syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q87.8
  • OMIM: 113650  610896
  • UMLS: C0265234
  • MeSH: D019280
  • GARD: 10147
  • MedDRA: 10071135

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.