Waardenburg syndromes are deafness syndromes associated with pigmentary disturbances. Their incidence is 1/270,000 births/year. They are distinguished by their autosomal dominant transmission and their irregular depigmentation. Wardenburg syndrome type III is the rarest form. The diagnostic criteria include the association of limb anomalies - hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies - and, in common with type I, facial dysmorphism including dystopia canthorum, pigmentary disturbances and deafness. The molecular diagnosis consists in searching for mutations in the PAX3 gene. Management combines hearing aids and limbs physiotherapy. Skin and eyes photoprotection is highly recommended.
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