Waardenburg Syndrome - Signs and Symptoms

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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