Waardenburg-Shah syndrome

What is Waardenburg-Shah syndrome?

Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).

Other condition names

  • Shah-Waardenburg syndrome
  • WS4
  • Waardenburg syndrome type 4
  • Waardenburg-Hirschsprung syndrome

Inheritance type

Autosomal dominant, Autosomal recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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