![]() ![]() While the minor characteristics of CHARGE syndrome are common in this disorder, they are also frequently present in people without the disorder. People with CHARGE syndrome also typically have middle and inner ear abnormalities, which can contribute to hearing problems, and unusually shaped external ears. Abnormal function of certain cranial nerves can cause swallowing problems, facial paralysis, a sense of smell that is diminished (hyposmia) or completely absent (anosmia), and mild to profound hearing loss. The cranial nerves emerge directly from the brain and extend to various areas of the head and neck, controlling muscle movement and transmitting sensory information. Affected individuals frequently have cranial nerve abnormalities. In many people with CHARGE syndrome, one or both nasal passages are narrowed (choanal stenosis) or completely blocked (choanal atresia), which can cause difficulty breathing. Some affected individuals also have abnormally small or underdeveloped eyes ( microphthalmia). A coloboma may be present in one or both eyes and may impair a person's vision, depending on its size and location. Most individuals with CHARGE syndrome have a gap or hole in one of the structures of the eye (coloboma), which forms during early development. The major characteristics of CHARGE syndrome are common in this disorder and occur less frequently in other disorders. Affected individuals usually have several major characteristics or a combination of major and minor characteristics. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. CHARGE syndrome is a disorder that affects many areas of the body.
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