Harvey's Garden

Waardenburg syndrome

1 min read

  • Pathophysiology: Autosomal Dominant defect in neural crest cell migration/differentiation.
  • Classic Triad:
    1. White forelock (poliosis).
    2. Heterochromia iridis (different colored eyes) or brilliant blue eyes.
    3. Congenital sensorineural deafness.
  • Association: Hirschsprung disease (due to shared failure of neural crest migration).

Graph View