PAX3 and craniofacial-deafness-hand syndrome: Although PAX3 mutations are more usually associated with Waardenburg syndrome and as a cause of neural tube defects, craniofacial-deafness-hand syndrome, alveolar rhabdomyosarcoma, and congenital hearing loss, there is a low prevalence of hydrocephalus reported within PAX3 mutant patients [12,13].