Waardenburg's syndrome
MeSH: D014849ORPHA: 3440
Overview
genetic condition involving hearing loss and depigmentation
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 Waardenburg's syndrome, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentProminent nasal bridgeSynophrysAbnormality of skin pigmentationHypopigmented skin patchesHeterochromia iridisAbnormal facial shapePremature graying of hairHypopigmentation of hairSensorineural hearing impairmentUnderdeveloped nasal alaeWide nasal bridgeAbnormality of the eyeTelecanthusAbnormal eyebrow morphologyWhite forelockCongenital sensorineural hearing impairmentOrofacial cleftPtosisBlue iridesWhite eyelashesAganglionic megacolonVertigoSpina bifidaMyelomeningoceleIntestinal obstructionVestibular areflexiaPeripheral neuropathyAbnormality of the gastrointestinal tractCamptodactylyElbow contractureAplasia/Hypoplasia of the colon
Classification & Codes
MeSH Code
D014849Orphanet Code
ORPHA:3440Waardenburg's syndrome
| MeSH | D014849 |
| Orphanet | ORPHA:3440 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO