branchiootorenal syndrome

branchiootorenal syndrome

An uncommon (1:40:000) autosomal dominant MIM 113650 condition characterised by mixed hearing loss accompanied by a Mondini-type cochlear malformation, bilateral renal dysplasia with abnormalities of collecting ducts and bilateral branchial clefts and/or cysts.

bran·chi·o·ot·o·re·nal syn·drome

(brang'kē-ō-ō'tō-rē'năl sin'drōm)
An autosomal dominant disorder characterized by anomalies of the pharyngeal arch (branchial arch) derivatives, sensory hearing impairment, and renal abnormalities.
References in periodicals archive ?
A different type of branchial fistula as part of a branchiootorenal syndrome. J Pediatr Surg 2012;47(2):404-7.
(18) It has also been described in patients with branchial arch anomalies like Goldenhar, Poland, and branchiootorenal syndromes. (19,20) Rarely, hereditary neuromuscular disorders can present with facial palsy that is noticeable at birth.