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.
Called the 'Ambassadors of Hope', these children are representing the 7000 different rare conditions and suffer from diseases including: Ataxia-Telangiectasia, Autosomal Recessive Polycystic Kidney disease, Batten disease, Branchiootorenal Syndrome, Canavan disease, Cystic Fibrosis, Dravet Syndrome, Duchenne Muscular Dystrophy, Fibrous Dysplasia, Joubert Syndrome, Mitochondrial Encephalomyopathy, Niemann Pick Type C, Hutchinson-Gilford Progeria, Spinal Muscular Atrophy, Subcortical Band Heterotopia, Tay-Sachs and Type 2 Gaucher's disease.