CHARGE Syndrome

Excerpt

CHARGE syndrome is a rare, autosomal dominant genetic disorder commonly diagnosed during the prenatal or neonatal period due to the identification of numerous dysmorphic and congenital anomalies. The features of CHARGE syndrome were first described independently by Hall and Hittner, and hence, it was initially called Hall-Hittner syndrome. Pagon first described the cardinal anomalies such as coloboma, choanal atresia, heart defects, genital abnormalities, retarded growth, and ear malformation and coined the term CHARGE syndrome. Diagnosis is now made using criteria proposed by Blake et al. and further modified by Verloes, who highlighted the importance of the 3C triad (coloboma, choanal atresia, abnormal semicircular canals). Other criteria include orofacial cleft, distinctive facial appearance, tracheoesophageal fistula, limb abnormalities, and rarely, immune deficiencies.

Mutations in the CHD7 (chromodomain helicase DNA binding protein) gene present on 8q12 results in several structural and physiological abnormalities, including hearing and vision loss, heart defects, and gastrointestinal (GI) problems. Among these, GI problems have a deep influence through an individual's life, with a subsequent increase in morbidity and mortality.