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Table 2:

Updated diagnostic criteria for CHARGE syndrome9

Major and Minor Signs of CHARGE Syndromea
Major (the 3 Cs)
    Coloboma
    Choanal atresia
    Hypoplastic semicircular Canals
Minor
    Rhombencephalic dysfunction
    Hypothalamohypophyseal dysfunction
    Abnormal middle or external ear
    Malformation of mediastinal organs (heart, esophagus)
    Mental retardation
  • a Typical CHARGE = 3 major signs OR 2 major signs +2 minor signs; partial/incomplete CHARGE = 2 major signs +1 minor sign; and atypical CHARGE = 2 major signs +0 minor signs OR 1 major sign +3 minor signs.