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. Waardenburg syndrome type I associates at least 2 major or 1 major and at least 2 minor clinical criteria. Major criteria are: dystopia canthorum, pigmentary disturbances (white forelock, eyelashes, eyebrows and body hair; heterochromia of the iris, sapphire blue eyes), cochlear neurosensory deafness, a suggestive family history. Minor criteria include: cutaneous pigmentary anomalies with depigmented zones, synophrys, prominent nasal root, hypoplastic alae nasi, premature graying of the hair. The molecular diagnosis is based on the search for a heterozygous mutation in the paired box-containing, PAX3 gene in chromosome 2q. Hearing aids to counter deafness and management of the associated malformations are recommended. Skin and eyes photoprotection is highly recommended.
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