/PCWH syndrome

PCWH syndrome

Rare Disease

MONDO:0012198

Also Known As

PCWHWS4 plusneurologic Waardenburg-Shah syndromeperipheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung diseaseperipheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndromeWaardenburg-Shah syndrome, neurologic variantperipheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Definition

A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.