Table 1:

CHARGE syndrome diagnostic criteria⁵³

Major Criterion	Minor Criterion
+Coloboma	+Heart defect
+Choanal atresia	−Orofacial cleft
+Characteristic ear anomalies	+Genital hypoplasia
+Cranial nerve dysfunction (facial palsy, vestibular dysfunction, swallowing difficulties)	+Growth deficiency
	+Developmental delay
	−Tracheo-esophageal fistula
	+Distinct facial appearance

Note:—CHARGE indicates Coloboma, Heart defects, choanal Atresia, mental Retardation, Genitourinary, and Ear anomalies; +, pertinent positive finding; −, pertinent negative finding. A CHARGE diagnosis is indicated by 4 major criteria or 3 major and 3 minor criteria. Exclude other conditions such as velocardiofacial syndrome and DiGeorge sequence using FISH test to exclude 22q11 deletion.