Table 6a. [Select Common Causes of Autosomal Dominant Syndromic Hearing Loss]. - GeneReviews®

Gene(s)	Syndrome	Hearing Loss	Comment
CHD7	CHD7 disorder (incl CHARGE syndrome)	Conductive, SNHL	Variable	Variable	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
COL2A1 COL11A1 COL11A2	AD Stickler syndrome	Conductive, SNHL	Variable	Variable	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.
EDN3 EDNRB KITLG MITF PAX3 SNAI2 SOX10	Waardenburg syndrome (WS) (See Waardenburg Syndrome Type I.)	SNHL	Congenital	Variable	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.
EYA1 SIX1 SIX5	Branchiootorenal spectrum disorder (BOR)	Conductive, SNHL, mixed	Variable	Variable	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	SNHL	Average: age 18-24 yrs	Generally 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.

Gene(s)

Syndrome

Hearing Loss

Comment

Type

Onset

Severity

CHD7

CHD7 disorder (incl CHARGE syndrome)

Conductive, SNHL

Variable

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

COL2A1
COL11A1
COL11A2

AD Stickler syndrome

Conductive, SNHL

Variable

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.

EDN3
EDNRB
KITLG
MITF
PAX3
SNAI2
SOX10

Waardenburg syndrome (WS) (See Waardenburg Syndrome Type I.)

SNHL

Congenital

Variable

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.

EYA1
SIX1
SIX5

Branchiootorenal spectrum disorder (BOR)

Conductive, SNHL, mixed

Variable

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

SNHL

Average: age 18-24 yrs

Generally 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.

From: Genetic Hearing Loss Overview

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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