Table 1 Symptoms of the patient compared with major and minor diagnostic criteria in CHARGE patients8
From: A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome
Diagnostic criteria | Symptoms of the patient | Frequency in CHARGE patients 8 |
|---|---|---|
Major | ||
 Ocular coloboma | − | 80–90% |
 Choanal atresia or stenosis | + | 50–60% |
 Cranial nerve dysfunction | Unclear (VIII, IX/X) | Frequent (VIII) or 70–90% (IX/X) |
 Characteristic CHARGE syndrome ear | + (Characteristic outer and inner ears and deafness) | 80–100% |
Minor | ||
 Genital hypoplasia due to congenital hypogonadotropic hypogonadism | + (Micropenis, cryptorchidism) | 50–60% (male; micropenis, cryptorchidism) |
 Developmental delay | − | ⩽100% |
 Cardiovascular malformations | + | 75–85% |
 Growth deficiency | − | 70–80% |
 Orofacial cleft | + | 15–20% |
 Tracheoesophageal fistula | − | 15–20% |
 Distinctive facial feature | − | 70–80% |
