Branchiogenic deafness syndrome
MeSH: C563780ORPHA: 50815
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 Branchiogenic deafness syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palateAbnormal pinna morphologyPreauricular skin tagOverfolded helixConductive hearing impairmentSensorineural hearing impairmentMixed hearing impairmentAtresia of the external auditory canalAstigmatismStrabismusSpecific learning disabilityShort statureAbnormality of the middle ear ossiclesPreauricular pitReticulated skin pigmentationAplasia/Hypoplasia of the inner earBranchial fistulaBranchial cystOsteolytic defects of the distal phalanges of the handShort distal phalanx of fingerUnderdeveloped tragus
Classification & Codes
MeSH Code
C563780Orphanet Code
ORPHA:50815Branchiogenic deafness syndrome
| MeSH | C563780 |
| Orphanet | ORPHA:50815 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO