Preferred Label : Waardenburg-Shah syndrome, neurologic variant;
ICD-11 definition : Neurologic Waardenburg-Shah syndrome, 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.;
Origin ID : 1369140256;
Automatic exact mappings (from CISMeF team)
Neurologic Waardenburg-Shah syndrome, 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.
