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PCWH syndrome

rare

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.

Identifiers
MONDO:0012198 OMIM:609136Orphanet:163746
Causal genes
SOX10
Part of
Autosomal dominant diseaseSyndromic disease
Also known as
neurologic Waardenburg-Shah syndrome · PCWH · peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease · WS4 plus

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