C = Coloboma.
H = Congenital Heart Disease.
A = Atresia Choanae.
R = Retarded Growth and Development.
G = Genital Abnormalities.
E = Ear Anomalies and Deafness.
- Sporadic, with multiple
anomalies that occur in a nonrandom association.
- Coloboma sequence (ranging
from coloboma to microphthalmia).
- Congenital Heart Defects:
- Tetralogy of Fallot.
- Double outlet right
ventricle.
- Atrioventricular canal
defects.
- ASD.
- VSD.
- Choanal
atresia. (78% bilateral) (1).
- Growth retardation
(postnatal).
- Genital abnormalities (75%) -
testicular hypoplasia, microphallus in males.
- Ear abnormalities (88%):
- Microtia, cupped,
pixie-like with absent helices, tragus or other ear folds.
- Deafness.
- Micrognathia (rare).
- Bilateral renal agenesis.
- Kaplan LC. The CHARGE Association:
Choanal atresia and multiple congenital anomalies. Otolaryngologic Clinica
North An 1989;22:661-673.