Hearing Presentations

Presentations where hearing loss is the chief concern, whether identified through universal newborn screening or noticed later. Reasoning splits first along sensorineural vs conductive vs mixed lines, then syndromic vs non-syndromic, then acquired vs genetic. Genetic causes account for roughly half of permanent congenital hearing loss, and within that group most are non-syndromic with GJB2 leading by a wide margin; the rest cluster into a small number of high-yield syndromes (Usher, Pendred, Waardenburg, Alport, BOR, Jervell-Lange-Nielsen) that share the property of being recognizable on physical exam if you look. Congenital CMV is the single most common non-genetic cause and is the one acquired cause that needs to be on the differential from day one because antiviral treatment changes outcomes when started early.