Genetic Syndromes

Question 1

Waardenburg Syndrome

Answer 1

4 Subtypes
Key Characteristics:
-White forelock of hair
-Congenital SNHL
-Iris pigmentation
-1st degree relative
Autosomal dominant 
HL: Normal to profound, unilateral or bilateral, low frequency loss or U-shaped configuration

Question 2

Branchio Oto Renal

Answer 2

Key Characteristics:
-Renal issues
-Eye issues - stenosis of tear ducts
-Cysts on the neck
Autosomal dominant
Auditory: External ear - pits, tags, cupped, stenosis
Middle ear - Fixed or displaced ossicles
Inner ear - Cochlear hypoplasia 
HL: Mild to profound, congenital or progressive

Question 3

What does CHARGE stand for?

Answer 3

C: Coloboma
H: Heart defects
A: Atresia of Choanae (nose)
R: Retardation of growth/development
G: Genital abnormalities
E: Ear

Question 4

CHARGE

Answer 4

Mutation of gene for binding protein in chromatin remodeling
Autosomal dominant
Auditory: Outer ear - abnormal pinna
Middle ear - absent ossicles, ET dysfunction
Inner ear - Mondini’s dysplasia
HL: typically severe, congenital, stable,

Question 5

Stickler Syndrome

Answer 5

More common
Facial abnormalities
Can affect eyes and joints
Mutation of collagen genes
5 types
Most commonly autosomal dominant but can be autosomal recessive as well
Most commonly SNHL
Most commonly mild to moderate sloping
Begins at birth and progresses

Question 6

Treacher Collins

Answer 6

Autosomal dominant
Lack of neural crest cells
Rare
Craniofacial abnormalities
Outer and middle ear anomalies (anotia, atresia). Inner ear unaffected
Moderate to severe conductive loss

Question 7

Usher Syndrome

Answer 7

Affects eyes & ears
Mutation in genes for protein involved in the building & maintenance of IHCs & OHCs
Progressive
3 types (type 1 most severe)
SNHL
Autosomal recessive

Question 8

Jervell and Lange-Nielson Syndrome

Answer 8

Form of long QT Syndrome - fainting & risk of sudden death
Rare
Watch for dizziness, balance, issues, fainting, & falling.
Mutation that codes for genes that form potassium channels in cells - disrupts epithelium tissues of inner ear, heart & GI tract
Congenital profound hearing loss
Autosomal recessive

Question 9

Pendred Syndrome

Answer 9

Goiter (Euthyroid)
Mutation in gene that makes protein called pendrin. Pendrin found in cochlea, thyroid, kidney
Autosomal recessive
Congenital severe to profound bilateral SNHL
Can have Mondini Dysplasia

Question 10

Down Syndrome

Answer 10

Trisomy chromosome 21
Common
Distinct facial features, intellectual disability
Can have heart defects, speech/language deficits, hypotonia,
Childhood: Conductive (High rates of otitis media, stenosis, excessive cerumen)
Adulthood: SNHL

Question 11

Neurofibromatosis Type 2 (NF2)

Answer 11

Autosomal dominant
Mutations to the tumor suppressor gene
Progressive hearing loss due to tumor growth
Degree: Variable
Red flags: Asymmetric hearing loss