CHARGE syndrome refers to a specific set of birth defects, including coloboma of the eye, heart defects, choanal atresia, mental and growth retardation and ear anomalies or hearing loss. Congenital anomalies, which when seen together are quite specific to CHARGE syndrome, include coloboma of the iris, retina, choroid and/or optic disc with or without microphthalmos; choanal atresia or stenosis; and hypoplastic semi-circular canals. Cranial nerve dysfunction is a minor sign and includes anosmia, neurosensory deafness, facial palsy and swallowing difficulties. Ear abnormalities involving the helices, middle ear and inner ear are very common and were seen in 90% of affected individuals in one study. Affected patients may also have genital abnormalities (hypogonadotropic hypogonadism), pre- and post-natal growth deficiency, hypotonia, and characteristic hands (broad palms with “hockey-stick” palmar crease, short fingers and small/unusual thumbs). The characteristic facial appearance includes square face with broad prominent forehead, arched eyebrows, large eyes with or without ptosis, prominent nasal bridge and columella, flat midface, small mouth and facial asymmetry. CHARGE syndrome encompasses additional nonspecific features such as mental retardation, skeletal abnormalities, hypodontia, orofacial clefting, tracheoesophageal fistula, and urinary tract and renal anomalies.