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Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Disease definition

Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.

ORPHA:163746

  • Synonym(s):
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • WS4 plus
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.2
  • OMIM: 609136
  • UMLS: C1836727
  • MeSH: -
  • GARD: -
  • MedDRA: -

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