CHARGE syndrome Flashcards
1
Q
What does CHARGE stand for?
A
C - coloboma H - heart A - atresia choanal R- restriction of growth G - genital abnormality E - ear abnormality
2
Q
What are the eye abnormalities seen in CHARGE syndrome?
A
Coloboma - hole in a structure of the eye
Microophthalmia - small eyes
3
Q
What is the choanal atresia noted in CHARGE syndrome?
A
one or both nasal passages are narrowed (stenosis) or completely blocked (atresia)
4
Q
What are the genital abnormalities noted in CHARGE syndrome?
A
- hypogonadotropic hypogonadiam
- cryptorchidism (undescended testis)
- Micropenis
