branchio-oto-renal syndrome
Findings
No curated finding names branchio-oto-renal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome 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).
Definition from the Mondo Disease Ontology (MONDO:0007029), read 2026-09-29. CC BY 4.0.
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the inner earHPOHP:0000359
- Very frequent (80% to 99% of cases)
- Abnormality of the middle earHPOHP:0000370
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Preauricular pitHPOHP:0004467
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Abnormality of the middle ear ossiclesHPOHP:0004452
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cochleaHPOHP:0011395
- Frequent (30% to 79% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Frequent (30% to 79% of cases)
- Branchial anomalyHPOHP:0009794
- Frequent (30% to 79% of cases)
- Branchial cystHPOHP:0009796
- Frequent (30% to 79% of cases)
- Branchial sinusHPOHP:0100272
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
Show the remaining 26
- Enlarged cochlear aqueductHPOHP:0011388
- Frequent (30% to 79% of cases)
- Enlarged vestibular aqueductHPOHP:0011387
- Frequent (30% to 79% of cases)
- Hypoplasia of the cochleaHPOHP:0008586
- Frequent (30% to 79% of cases)
- Lop earHPOHP:0000394
- Frequent (30% to 79% of cases)
- Mixed hearing impairmentHPOHP:0000410
- Frequent (30% to 79% of cases)
- Preauricular skin tagHPOHP:0000384
- Frequent (30% to 79% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EYA1HGNC:3519
- Definitive · ClinGen · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- SIX1HGNC:10887
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · ClinGen · Autosomal dominant · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- SIX5HGNC:10891
- Supportive · Orphanet · Autosomal dominant · 2021
- Disputed Evidence · ClinGen · Autosomal dominant · 2018
Where it sits
Other names
2 names
Resolves to: branchio-oto-renal syndrome
- Also called
- branchiootorenal syndromeMelnick-Fraser syndrome