Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder caused by pathogenic variants in EYA1 , SIX1 , or SIX5 , which affect the branchial arches, auditory system, and kidneys. Diagnosis integrates clinical criteria that require major criteria such as branchial anomalies, hearing loss, or preauricular pits, as supported by genetic testing....
✦ The floor
Discussion
Signed responses from readers of the wire.
Audiologists should be aware of BOR syndrome as a cause of hearing loss with associated neck and kidney anomalies; refer patients with this combination of features for genetic evaluation, but no change to routine audiological practice is indicated based on a narrative review alone.
Raising awareness of BOR syndrome among audiologists supports earlier identification of a treatable genetic hearing loss that requires coordinated multidisciplinary care.
- 01BOR syndrome is caused by variants in EYA1, SIX1, or SIX5 genes and follows autosomal dominant inheritance.
- 02The syndrome affects the branchial arches, auditory system, and kidneys simultaneously.
- 03Hearing loss in BOR can be conductive, sensorineural, or mixed.
- 04Narrative reviews synthesize existing evidence but do not generate new clinical data.
- 05Genetic referral is warranted when hearing loss co-occurs with branchial or renal anomalies.
BOR syndrome is caused by variants in EYA1, SIX1, or SIX5 genes.
studysupportedBOR syndrome follows autosomal dominant inheritance.
guidelinesupported- PMID
- 42779651
- DOI
- 10.3339/ckd.25.039.
- Journal
- Child Kidney Diseases
- Publication type
- review
- Evidence level
- 5
- Population
- Patients with Branchio-oto-renal syndrome (narrative review; no primary patient cohort)
- Intervention
- Narrative review of BOR syndrome genetics, diagnosis, and management
Primary outcomes
Characterization of genetic variants associated with BOR syndrome; Summary of clinical features and diagnostic criteria; Overview of management approaches