Abnormalities of external genitalia are seen less often in affected females. As a result, males with CHARGE syndrome are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). Affected individuals frequently have hypogonadotropic hypogonadism, which affects the production of hormones that direct sexual development. The minor characteristics include heart defects slow growth starting in late infancy delayed development of motor skills, such as sitting unsupported and walking and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). 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.
Despite these complications, the life expectancy for many individuals can be normal. ĬHARGE syndrome is a disorder that affects many areas of the body. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Life expectancy highly depends on the severity of manifestations mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). CHARGE CHARGE ASSOCIATION-COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES CHARGE syndrome Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation Hall-Hittner syndrome Hittner Hirsch Kreh syndromeĬoloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome (47535005) Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (47535005) Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (47535005) CHARGE syndrome (47535005) CHARGE (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies) syndrome (47535005) Hall Hittner syndrome (47535005) CHARGE association (47535005)ĬHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype.
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