Table 6a.

Select Common Causes of Autosomal Dominant Syndromic Hearing Loss

Gene(s)SyndromeHearing LossComment
CHD7 CHD7 disorder (incl CHARGE syndrome) Conductive, SNHLVariableVariable
  • Cranial nerve VIII dysfunction/anomaly: SNHL &/or vestibular dysfunction
  • Cochlear implantation may be difficult or impossible due to altered cochleovestibular anomalies.
  • Other cranial neuropathies may also be present.
  • Ear malformations such as ossicular malformations assoc w/complex mixed HL
AD Stickler syndromeConductive, SNHLVariableVariable
  • 40% have some degree of sensorineural hearing impairment (typically high tone, often subtle).
  • Conductive HL can be seen & may be secondary to recurrent ear infections that are often assoc w/cleft palate &/or may be secondary to a defect of the ossicles of the middle ear.
Waardenburg syndrome (WS) (See Waardenburg Syndrome Type I.)SNHLCongenitalVariable
  • Most common type of AD syndromic HL
  • Hearing loss, pigmentary anomalies (white forelock), & dystopium canthorum (widely spaced medial canthus) are most commonly seen clinical features.
  • Various temporal bone abnormalities have been identified in persons w/WS1 & HL.
  • WS2, WS3, & WS4 can be inherited in an AD or AR manner.
Branchiootorenal spectrum disorder (BOR)Conductive, SNHL, mixedVariableVariable
  • 2nd most common type of AD syndromic HL
  • Kidney abnormalities
  • Branchial anomalies (branchial cleft tags, pits, cysts)
  • Malformations of outer, middle, & inner ear (e.g., preauricular pits)
NF2 Neurofibromatosis 2 SNHLAverage: age 18-24 yrsGenerally unilateral & gradual; can be bilateral & sudden
  • Bilateral vestibular schwannomas w/assoc symptoms of tinnitus, HL, & balance dysfunction
  • Vestibular schwannomas are a rare, potentially treatable type of HL.

AD = autosomal dominant; AR = autosomal recessive; HL = hearing loss; SNHL = sensorineural hearing loss; WS = Waardenburg syndrome

From: Genetic Hearing Loss Overview

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