Shah-Waardenburg syndrome

Pan Afr Med J. 2013:14:60. doi: 10.11604/pamj.2013.14.60.1543. Epub 2013 Feb 12.


Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.

Keywords: Hirschsprung's disease; Intestinal aganglionosis; Waardenburg-Shah syndrome; neurocristopathy.

Publication types

  • Case Reports

MeSH terms

  • Endothelins / physiology
  • Fatal Outcome
  • Hirschsprung Disease / diagnosis*
  • Hirschsprung Disease / pathology
  • Hirschsprung Disease / surgery
  • Humans
  • Infant, Newborn
  • Male
  • Pigmentation Disorders / diagnosis*
  • Waardenburg Syndrome / classification
  • Waardenburg Syndrome / diagnosis*
  • Waardenburg Syndrome / genetics
  • Waardenburg Syndrome / pathology


  • Endothelins

Supplementary concepts

  • Waardenburg syndrome, type 4