Waardenburg syndrome type 4 (Waardenburg-Shah syndrome)

Genetics

• associated with defects in sox10
• associated with defects in EDNRB
• associated with defects in EDN3

Clinical manifestations

• characterized by the association of Waardenburg syndrome features (depigmentation & deafness) & the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease)
• neurologic variant (PCWH) is a rare, complex & more severe neurocristopathy that includes features of 4 distinct syndromes:
  • P - peripheral demyelinating neuropathy
  • C - central dysmyelinating leukodystrophy,
  • W - Waardenburg syndrome
  • H - Hirschsprung disease

More general terms

• Waardenburg syndrome

Database

• OMIM: https://mirror.omim.org/entry/277580