nonsyndromic HL overview (quick facts)

Question 1

Syndromic conditions w/ external ear abnormalities

Answer 1

treacher collins, branchio-oto-renal, oculo-auriculo-vertebral and CHARGE syndrome

Question 2

Treacher Collins

Answer 2

AD
- caused by a deletion on nonsense mutation in the gene that codes trecal protien
- large fish like mouth, tears in eye structure, receding chin
- mild to moderate conductive HL, malformed pinna, atresia (closed ear canal)
- BAHA, cleft palate repair, speech therapy
Differential diagnosis OAV

Question 3

BOR

Answer 3

AD
- HL, progressive renal abnormalities (kidney-cysts), external ear malformation
- blood in urine, cyst on kidneys, external ear cyst, stenosis
-mild to profound SNHL or conductive
Differential diagnosis: Alports

Question 4

BOR vs Alports

Answer 4

BOR: cystic kidneys
Alports: inflammation of kidneys & eye abnormalities

Question 5

OAV

Answer 5

Sporadic Inheritance
-unilateral malformation of craniofacial structures from the 1st and 2nd arches
- mildest of the combined 3 complex disorders
- asymmetrical facial abnormalities, cardiac anomalies, vertebral anomalies and deafness or blindness
- pinna anomalies, conductive HL
Differential diagnosis: treacher collins

Question 6

CHARGE

Answer 6

most cases are sporadic can be AD
C: coloboma (tear in eye structure)
H: heart defects
A: atresia (narrowing) of nasal conchae
R: Retardation (delay) of growth & development
G: Genital abnormalities & underdeveloped sexual organs (infertile)
E: Ear abnormalities & deafness
- external ear anomalies, ossicular malformations with ET dysfunction, considered to be a deaf/blind syndrome

Question 7

syndromic conditions associated with eye disease

Answer 7

Ushers & Norrie

Question 8

Ushers

Answer 8

3 Types
- AR, Blindess do to retnis pigmentosia)
- Type 1: most severe; severe to profound SNHL, abnormal vestibular dysfunction & gait ataxia, delayed mildstones

Type 2: less severe, congenital HL moderate to severe, NO vestibular problems

Type 3: RARE
- progressive vestibular and SNHL
- Possible founder affect

Differential diagnosis: Norrie

Question 9

Norrie

Answer 9

X- link recessive
- daughters carriers if from dad, boys will express
- blindess not do to RP
- 2nd decade onset, moderate to severe SNHL, flat or slopping audio
- CNS involvement

Differential diagnosis:
- Ushers (blindess not due to RP) CNS specific to Norrie
- Rubella
- CMV

Question 10

syndromic conditions associated with musculoskeletal diseases

Answer 10

crouzon, stickler, achondroplasia and osteogenesis imperfecta