Definition
CHARGE syndrome is a syndrome characterized by coloboma, heart defect, choanal atresia, retardation, genital and ear anomalies.
Symptoms
- Coloboma
- Congenital heart defect
- Choanal atresia
- Hearing loss
Reasons
CHD7 gene mutation.
Diagnosis
Clinical criteria, genetic testing.
Treatment
Multidisciplinary approach.
Which Polyclinic Should You Apply To?
Genetics Polyclinic
What to Do in an Emergency?
In case of respiratory distress, emergency services should be consulted.
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