Waardenburg-Shah syndrome
ORPHA: 897
Overview
Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities; see this term) and Hirschsprung disease (see this term)
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-Shah syndrome, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentAbnormality of the noseProminent nasal bridgeUnderdeveloped nasal alaeWide nasal bridgeAbnormality of the eyeAbnormality of visionTelecanthusAbnormal eyebrow morphologySynophrysAbnormal macular morphologyOlfactory lobe agenesisConstipationAbdominal painWhite forelockPremature graying of hairWhite eyebrowWhite eyelashesAbnormal intestine morphologyAganglionic megacolonIntestinal obstructionHypopigmentation of hairAbnormal retinal pigmentation
Classification & Codes
Orphanet Code
ORPHA:897Waardenburg-Shah syndrome
| Orphanet | ORPHA:897 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO