branchiootic syndrome
Findings
No curated finding names branchiootic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).
Definition from the Mondo Disease Ontology (MONDO:0018878), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Preauricular pitHPOHP:0004467
- Very frequent (80% to 99% of cases)
- Abnormal middle ear morphologyHPOHP:0008609
- Frequent (30% to 79% of cases)
- Abnormality of the inner earHPOHP:0000359
- Frequent (30% to 79% of cases)
- Abnormality of the outer earHPOHP:0000356
- Frequent (30% to 79% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Frequent (30% to 79% of cases)
Show the remaining 4
- Facial palsyHPOHP:0010628
- Occasional (5% to 29% of cases)
- Lip pitHPOHP:0100267
- Occasional (5% to 29% of cases)
- MicrognathiaHPOHP:0000347
- Occasional (5% to 29% of cases)
- Preauricular skin tagHPOHP:0000384
- Occasional (5% to 29% of cases)
Genes
2 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.