Waardenburg syndrome type 1
ORPHA: 894
Overview
human disease
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 syndrome type 1, sourced from HPO and Orphanet clinical annotations.
Mandibular prognathiaHearing impairmentAbnormality of the eyeAbnormality of visionTelecanthusThick eyebrowLacrimation abnormalityHypopigmented skin patchesHeterochromia iridisWhite forelockWhite eyebrowWhite eyelashesShort noseHypopigmentation of hairCongenital sensorineural hearing impairmentWhite hairUnderdeveloped nasal alaeWide nasal bridgeSynophrysAbnormal hair morphologyPremature graying of hairTented upper lip vermilionCleft palateCleft upper lipStrabismusPtosisSprengel anomalyAganglionic megacolonSpina bifidaMeningoceleScoliosisAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:894Waardenburg syndrome type 1
| Orphanet | ORPHA:894 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO