branchiootic syndrome
MeSH: C565171ORPHA: 52429
Overview
syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with branchiootic syndrome, sourced from HPO and Orphanet clinical annotations.
Facial asymmetryMicrognathiaAbnormality of the outer earAbnormality of the inner earPreauricular skin tagConductive hearing impairmentSensorineural hearing impairmentAtresia of the external auditory canalPreauricular pitAbnormal middle ear morphologyBranchial fistulaFacial palsyCleft palateHearing impairmentAbnormal nasolacrimal system morphologyLip pit
Classification & Codes
MeSH Code
C565171Orphanet Code
ORPHA:52429branchiootic syndrome
| MeSH | C565171 |
| Orphanet | ORPHA:52429 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO