Keywords: Waardenburg's syndrome, hearing loss

Abstract: Waardenburg's Syndrome is a genetic disease of autosomal dominant transmission. The characteristic of greatest clinical importance is hearing loss. It is calculated that 2 to 5% of all cases of congenital deafness are due to this pathology. The present investigation was undertaken in order to study the characteristics of eight patients with a diagnosis of Waardenburg's Syndrome seen at the Otorhinolaryngology Outpatient Clinic of HCFMRP-USP, with special emphasis on the hearing problem. All patients were evaluated by tone audiometry and imitanciometry. Deep and bilateral hearing loss was the most common characteristic among these patients (87.5%), followed by heterochromia of the iris (62.5%), dystopia canthorum (50%) and frontal white spot (25%). Three patients presented a new mutation (37.5%). The probability of a carrier of the syndrome transmitting the disease to a child is 50%. The probability of the child who developed the syndrome having hearing problems is approximately 25% for type I and 50% for type II. Knowledge of the characteristics of Waardenburg's Syndrome and its identification are essential for the early diagnosis of hearing loss related to the disease, avoiding unnecessary tests, decreasing the costs for the patient and also permitting an early start of hearing rehabilitation.