Catalog

Waardenburg-Shah syndrome, neurologic variant

No MMS code

Link to WHO Definition

Waardenburg-Shah syndrome, neurologic variant – http://id.who.int/icd/entity/1369140256

Neurologic Waardenburg-Shah syndrome, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterised 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.