Sydromes Flashcards
1
Q
Waardenburg syndrome:
A
- only 15% actually deaf
- very high IQ’s
2
Q
Treacher-Collins syndrome:
A
- no cognitive issues
- odd facial structure
- usually lack outer ears
3
Q
Pendred syndrome:
A
-thyroid anomalies, dominant
4
Q
Usher syndrome:
A
- usher 1 is a missing protein needed for ear functions and eye health. born profoundly deaf. no balance. night blindness. tunnel vision.
- usher 2 normal sighted, normal balance, gradual hearing loss
5
Q
BOR syndrome:
A
(Brecio Oto Renal)
6
Q
Stickler Syndrome:
A
- impacts the connective tissue within the body
- can have retinal detachment and scoliosis
7
Q
Alport syndrome:
A
-cookie bite hearing loss that gets continuously worse
8
Q
NFII (NF2):
A
-sudden fast growing tumors
9
Q
Jervell-Lange-Neilson:
A
- Rare, very fatal
- abnormal rhythm in the heart that leads to cardiac arrest
- most die upon first incident
10
Q
CHARGE:
A
-Colobona Heart Atresia Retardation Genitalia
