Branchiootorenal syndrome | definition of branchiootorenal syndrome by Medical dictionary
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.