LD2H.3

ICD-11 MMS 2026-01

Waardenburg-Shah syndrome

Description

In this syndrome the phenotype includes not only the classical features of Waardenburg syndrome but also Hirschsprung disease. It may be caused by mutations in SOX10, EDN3 or EDNRB genes.

Index terms

  • Waardenburg-Shah syndrome
  • Waardenburg syndrome type 4A
  • Hirschsprung disease with pigmentary anomaly
Show allHide
  • Waardenburg-Shah syndrome, neurologic variant

Exclusions from above levels

  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD2H.0 – Fraser syndrome
  • LD2H.1 – Neuropathy with hearing impairment
  • LD2H.2 – Progressive deafness with stapes fixation
  • LD2H.4 – Usher syndrome
  • LD2H.Y – Other specified syndromic genetic deafness
  • LD2H.Z – Syndromic genetic deafness, unspecified

Foundation entity

Waardenburg-Shah syndrome – http://id.who.int/icd/entity/1420151003

Part of: LD2H: Syndromic genetic deafness › 20: Developmental anomalies