PCWH syndrome

A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellect

A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13.

Signs and symptoms

• Nystagmus
• Intellectual disability
• Global developmental delay
• Sensorineural hearing impairment
• Alacrima
• Cryptorchidism
• Ataxia
• Decreased lacrimation
• Spasticity
• Aganglionic megacolon

Also known as: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome