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Waardenburg Syndrome

Main Features

Eye Findings

  • Iris pigmentary abnormality
    • Complete heterochromia
    • Segmental heterochromia
    • Complete hypoplastic blue iridies
  • Telecanthus
  • Choroidal hypopigmentation

Other Findings

  • Skin hypopigmentation
  • Synophrys/medial eyebrow flare
  • Nasal anomalies
    • broad high nasal root
    • prominent columella
    • hypoplastic nasal alae
  • Premature gray hair (age <30 years)
  • Hirschsprung disease
  • Cleft lip and palate
  • Spina bifida

Etiology

  • Autosomal Dominant
  • Mutations in PAX3, MITF, SNAI2, SOX10, EDN3, EDNRB genees

Resources