Common Syndromes Associated with Hearing Loss Autosomal dominant Waardenburg syndrome: Most common type of autosomal dominant syndromic hearing loss 4 types, all with varying degrees of nonprogressive SNHL and pigmentary abnormalities Type 1: dystopia canthorum (lateral displacement of inner canthi of eyes) present Type 2: dystopia canthorum absent Type 3: limb abnormalities Type 4: Hirschsprung disease present Stickler syndrome: Progressive SNHL Cleft palate present and spondyloepiphyseal dysplasia also may be present Often have severe myopia which increases risk for retinal detachment Branchiootorenal syndrome: Second most common autosomal dominant hearing loss Variable degree of SNHL, CHL, or mixed hearing loss. Abnormalities in first and second branchial structures, resulting in preauricular pits, malformations of external ear, abnormalities of the ossicles, branchial cleft cysts or fistulas, and renal abnormalities. Renal involvement may be absent Neurofibromatosis types 2: Hallmark is bilateral vestibular schwannomas Definitive diagnosis made with MRI Extremely rare in children, hearing loss often begins in third decade **************************************************** Autosomal recessive: Usher syndrome: Most common autosomal recessive syndromic hearing loss Most common cause of blindness or deafness (multisensory impairment) Blindness secondary to retinitis pigmentosa Early specialized eye examinations (electroretinography) can pick up disease as early as ages 2-4 years May also have vestibular dysfunction Type 1: congenital severe to profound SNHL and abnormal vestibular function Type 2: congenital mild to severe SNHL and normal vestibular function Type 3: progressive hearing loss and progressive loss of vestibular function Pendred syndrome: Variable SNHL and euthyroid goiter Often have enlarged vestibular aqueduct and cochlear abnormalities on CT Jervell and Lange-Nielsen syndrome: Congenital severe to profound SNHL Prolonged QT interval that may lead to syncopal episodes or sudden death Consider screening ECG If positive family history, consider cardiac evaluation X-linked Alport syndrome: Progressive hearing loss: Progressive glomerulonephritis Ophthalmologic abnormalities (anterior lenticonus) SNHL-sensorineural hearing loss.....CHL-conductive hearing loss) Osama Naga
Posted on: Sun, 09 Nov 2014 04:30:28 +0000
Trending Topics
Recently Viewed Topics
© 2015