Hearing Loss Associated with Integumentary Disorders

Question 1

What transmission does waardenburg syndrome have?

Answer 1

AD

Question 2

Is waardenburg common?

Answer 2

Yes
It is the most common AD syndromic hearing loss in humans

Question 3

What is waardenburg caused by?

Answer 3

deficit of neural crest cells

Question 4

How many subtypes of waardenburg are there?

Answer 4

4

Question 5

What type of waardenburg is common?

Answer 5

Type 1

Question 6

Is hearing loss present in waardenburg type 1?

Answer 6

Yes
20% bilateral
15% unilateral

Question 7

What are some other features that are common in waardenburg type 1?

Answer 7

Dystopia canthorum (100%) (lateral displacement of the inner angles of the eye)
Confluent eyebrows (synophrys)
High/broad nasal root (90%)
Heterochromia irides (35%)

Question 8

What are the integumentary findings of waardenburg?

Answer 8

White forelock
Premature graying of hair, eyebrows, and eyelashes

Question 9

How severe is the hearing loss in waardenburg?

Answer 9

Can be profound with a corner audiogram or moderate in the low to mid frequencies

Question 10

Are there vestibular abnormalities associated with waardenburg?

Answer 10

Yes

Question 11

What inner ear changes occur with waardenburg?

Answer 11

Atrophic changes in the spiral ganglion and VIII nerve
Degeneration of the organ of corti
Thickening of the basal membrane

Question 12

What are the characteristics of waardenburg type 2?

Answer 12

The same as type I except for the absence of dystopia canthorum
Unilateral hearing loss is less prevalent than in WS1

Question 13

What are the characteristics of waardenburg type 3?

Answer 13

Bilateral upper extremity defects in addition to WS1 findings
Underdevelopment (hypoplasia) and abnormal shortness of the upper limbs
Abnormal bending of certain joints of the fingers in fixed positions (flexion contractures)
Fusion of wrist (carpal) bones and/or webbing or fusion (syndactyly) of certain fingers
In some cases, abnormal elevation of the shoulder blade

Question 14

What are some characteristics of waardenburg type 4?

Answer 14

Deafness
Pigmentary disturbances
Absence of dystopia canthorum
Hirschsprung disease

Question 15

What is hirschsprung disease?

Answer 15

A disorder of intestinal motility characterized by the absence of parasympathetic plexuses of the gut
Not removing bowels, colon gets very large
Constipation