Charge Syndrome

The major diagnostic features of CHARGE syndrome include coloboma of the eyes, choanal atresia or stenosis, distinctive external ears, cranial nerve abnormalities, and absent or small semicircular canals. The mnemonic refers to coloboma of the eye, heart defects, atresia of choanae, retardation of growth and development, cenitalia hypoplasia, and ear abnormalities and deafness. There is no defined etiology, though a de novo mutation on the CHD 7 gene located on Chromosome 8 is responsible for more than 50% of CHARGE cases. The incidence of CHARGE is about 1:10,000 live births with an equal distribution between males and females. The anesthetic implications of this syndrome are many and vary with the patient’s phenotype. A potential difficult airway, congenital heart defects, choanal atresia, and cranial nerve abnormalities present the most significant issues for the anesthesiologist. A multidisciplinary team must be established early to properly care for these complex patients.