1naresh
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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.