Branchiootorenal (BOR) syndrome is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial arch anomalies (branchial clefts, fistulae, cysts), and renal abnormalities. Renal malformations may include urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts. In some cases, end-stage renal disease develops later in life.
BOR manifests wide clinical heterogeneity between affected individuals. Estimated prevalence of the disease is 1/40,000.
BOR syndrome is transmitted in an autosomal dominant manner.
Indications for genetic testing:
- Confirmation of clinical diagnosis
- Genetic counseling
- Prenatal diagnosis for known familial mutation
Fraser FC et al. Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss and renal anomalie. Am J Med Genet1978; 2: 241–252
Melnick M et al. Branchio‐oto‐renal dysplasia and branchio‐oto dysplasia: two distinct autosomal dominant disorders. Clin Genet1978; 13: 425–442
Smith RJH. Branchiootorenal Spectrum Disorders. GeneReviews® 1999 March 19 (Updated 2013 June 20)