Signs and Symptoms
There are five major and five minor diagnostic criteria for Waardenburg syndrome.
Major:
- sensorineural hearing loss
- iris pigmentary abnormality (two eyes different color or iris bicolor or characteristic brilliant blue iris)
- hair hypopigmentation (white forelock or white hairs at other sites on the body)
- dystopia canthorum (lateral displacement of inner canthi)
- first‐degree relative previously diagnosed with Waardenburg syndrome
Minor:
- skin hypopigmentation (congenital leukoderma/white skin patches)
- medial eyebrow flare (synophrys)
- broad nasal root
- hypoplasia alae nasi
- premature graying of the hair (before age 30).
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