![]() Despite these complications, the life expectancy for many individuals can be normal. Loss-of-function mutations in CHD7 (MIM 608892) are the primary cause of CHARGE syndrome (MIM 214800), a variable multiple congenital malformation syndrome that includes heart defects. 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. Angelo DiGeorge in 1965, as a clinical trial that included immunodeficiency, hypoparathyroidism, and congenital heart disease. Features of DGS were first described in 1828 but properly reported by Dr. 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. DiGeorge Syndrome (DGS) is a combination of signs and symptoms caused by defects in the development of structures derived from the pharyngeal arches during embryogenesis. ![]() 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). 39 Recurrent ear and respiratory tract infections are seen in about a quarter of patients with Alagille syndrome. ![]() CHD7 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. Alagille syndrome (MIM 118450), caused by variants in JAG1, shares abnormalities in the semicircular canals, heart defects, renal anomalies and intellectual disabilities with CHARGE syndrome.
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