Syndromes

Question 1

Usher Syndrome

Answer 1

Cochlear HL and retinitis pigmentosa: progressive degeneration of retina (causes night blindness and loss of peripheral vision)

Question 2

Usher Syndrome Type 1

Answer 2

30-40% of cases
profound congenital SNHL (low frequencies are good)
onset of RP by 10 years, absent vestibular responses

Question 3

Usher Syndrome Type 2

Answer 3

60-75% of cases
moderate sloping to severe SNHL (can be progressive)
onset of RP in early 20s
typically normal vestibular function

Question 4

Usher Syndrome Type 3

Answer 4

1-20% of cases

progressive SNHL, variable onset of RP, variable vestibular function
prevalent in finnish and ashkenazi jewish families

Question 5

Usher Syndrome Genetics

Answer 5

autosomal recessive, errors in encoding structure and function of cytoskeleton of stereocilia of HC

diagnosed ~10 years, RP confirmed by ophthalmolgoist, HL is usually earliest presenting sign

Question 6

Usher Syndrome management

Answer 6

Type 1=CI implant, Type 2,3 = traditional HA

Question 7

Usher Syndrome Red Flags

Answer 7

congenital HL with no family history of HL, delay in early motor development and congenital deafness, night blindness/fear of dark

Question 8

Pendred Syndrome

Answer 8

autosomal recessive disorder with congenital progressive SNHL, temporal bone abnormalities, thyroid goiter

Question 9

Pendred Syndrome Epidemiology

Answer 9

Incidence 1 per 7500, usually before 2-3 years. 2% of syndrome HL

Question 10

Pendred Syndrome & Mondini Malformation

Answer 10

occurs in 80-85% of cases, incomplete cochlea with less turns than the typical 2.5 may have a flattened appearance

Question 11

Pendred Syndrome Problems

Answer 11

60% develop goiter in life, problems swallowing

moderate-severe or profound u-shaped audigoram, depends on mondini malforamtion and course of syndrome

not a candidate for CI without a fully formed cochlea

Question 12

Waardenburg Syndrome

Answer 12

rare genetic disorder characterized by varying degree of deafness with pigment anomalies

Question 13

Waardenburg signs/symptoms

Answer 13

eyes: pale blue, combination of 2 colors in one eye or different color in each eye, wide set

white forelock, broad nasal root, absent posterior SCC (responsible for head rotation so may have balance issues)

Question 14

Waardenburg Types 1-4

Answer 14

Type 1: All physical symptoms
Type 2: no dystopia canthrum but HL and pigmentation issues
Type 3: upper-limb abnormalities
Type 4: intenstinal problems, HL, pigmentation, dystopia canthorum

types 1 & 2 = most common!!

Question 15

Waardenburg Prevalence

Answer 15

1 in 42,000 individuals, 3% of individuals that are deaf have this, highest incidence among kenyan

Question 16

Waardenburg Etiology

Answer 16

autosomal dominant pattern (family history), autosomal recessive in types 2,3,4

melanocytes have role in stria vascularis causes HL

Question 17

Waardenburg Hearing Loss

Answer 17

congenital non-progressive HL

60% of Type 1=congential bilateral profound SNHL
90% of type 2 have SNHL

treated with CI or HA

Question 18

Apert Syndrome

Answer 18

craniosynostosis-skull and skeletal malformations, cognitive impairment, conductive HL

Question 19

Apert Syndrome Epidemiology

Answer 19

congenital, 10-15 cases/1 million births, highest prevalence in asians
autosomal dominant

Question 20

Apert Syndrome & FBFR2

Answer 20

fibroblast growth factor receptor 2 – familal cases of apert follow autosomal dominant inheritance pattern

Question 21

Apert Syndrome & HL

Answer 21

conductive HL (OME, fixation of stapes footplate, structural anomalies) SNHL (cochlear aquedcut malformation, large internal auditory meatus)

Question 22

Treacher Colliins

Answer 22

rare autosomal dominant, 60% no family history, incomplete penetrance

Question 23

Treacher Collins Risks

Answer 23

caucasans, 1/10,000-50,000 births

Question 24

Treacher Collins signs & symptoms

Answer 24

external ear anomalies, preauricula hair displacement on cheek, absent ossicles – atresia, absence of ossicles, hypoplasia middle ear cavity

conductive HL, SNHL is uncommon

Question 25

Alport syndrome

Answer 25

late onset, progressive SNHL, renal problems
more common in males, occurs in 1/50,000 births
x-linked

Question 26

Stickler Syndrome

Answer 26

1/9,000 births, autosomal dominant

SNHL –> degree varies, craniofacial problems

Question 27

Cogan’s Syndrome

Answer 27

autoimmune
sudden SNHL in 50% of patients (progress-profound HL), balance problems in 40%, tinnitus

mimics Meniere’s disease

more adult onset – started by eye infection

Question 28

CHARGE

Answer 28

coloboma of eye
heart defects
atresia of choane 
retardation of growth
genital abnormalities
ear

Question 29

Paget Syndrome

Answer 29

mixed HL due to continued new bone formation within skull, abnormal bone

autosomal recessive

Question 30

Jervell & Lange-Nielson Syndrome

Answer 30

Heart disorder with long QT syndrome –> can lead to sudden death

profound SNHL from birth

Question 31

BOR (Branchiootorenal syndrome)

Answer 31

1/50,000 births
conductive SNHL or mixed HL
abnormal development of second branchial arch
autosomal dominant