CHARGE Syndrome, Esophagus

Synonyms

Hall-Hittner syndrome

Definition

CHARGE is an acronym coined by Pagon et al. in 1981 to describe the nonrandom association of ocular Coloboma, Heart defects, choanal Atresia, Retardation of growth and/or development, Genital anomalies and Ear anomalies (Table 1) (reviewed in Bergman et al. 2011; Zentner et al. 2010). These criteria were updated by Blake et al. in 1998 to include cranial nerve dysfunction and visceral malformations (Table 1). A few years later, in 2001, Amiel et al. stressed the specificity of inner ear anomalies in CHARGE patients, and suggested these should be included as major diagnostic criteria. Finally, in 2005, Verloes proposed diagnosis should be based on the 3C-triad comprising Coloboma, Choanal atresia, and abnormal semicircular Canals, and gave a formal definition of typical, partial, and atypical CHARGE (Table 1).

CHARGE Syndrome, Esophagus, Table 1 Clinical criteria for the diagnosis of CHARGE syndrome