Also Known As
central hearing losshigh frequency deafnesshigh frequency hearing losshigh-frequency hearing lossperceptive deafnessperceptive hearing lossperceptive hearing loss or deafnesssensorineural deafnesssensorineural hearing losssensory hearing lossDFNX2X-linked mixed conductive and neurosensory hearing lossX-linked mixed conductive and sensorineural hearing lossX-linked mixed hearing loss with perilymphatic gusherX-linked stapes gusher syndromeNance deafnessX-linked deafness type 2X-linked mixed conductive and neurosensory deafnessX-linked mixed conductive and sensorineural deafnessX-linked mixed deafness with perilymphatic gusherconductive deafness with stapes fixationdeafness mixed with perilymphatic gusher, X-linkeddeafness, X-linked 2, X-linked recessivedeafness, X-linked type 2DFN 3 nonsyndromic hearing loss and deafnessDFN3deafness 3 conductive with stapes fixationdeafness 3, conductive, with stapes fixationdeafness conductive with stapes fixationdeafness mixed with perilymphatic gusherdeafness, X-linked 2deafness, conductive, with stapes fixationdeafness, mixed, with perilymphatic gushergusher syndromeperilymphatic gusher-deafness syndromesensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear
Definition
X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.