Pathology of the Gastrointestinal Tract

2017 Edition
| Editors: Fátima Carneiro, Paula Chaves, Arzu Ensari

CHARGE Syndrome, Esophagus

Reference work entry


Hall-Hittner syndrome


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

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References and Further Reading

  1. Bergman, J. E., Janssen, N., Hoefsloot, L. H., et al. (2011). CHD7 mutations and CHARGE syndrome: The clinical implications of an expanding phenotype. Journal of Medical Genetics, 48(5), 334–342.PubMedCrossRefGoogle Scholar
  2. Janssen, N., Bergman, J. E., Swertz, M. A., et al. (2012). Mutation update on the CHD7 gene involved in CHARGE syndrome. Human Mutation, 33(8), 1149–1160.PubMedCrossRefGoogle Scholar
  3. Leboulanger, N., & Garabédian, E. N. (2011). Laryngo-tracheo-oesophageal clefts. Orphanet Journal of Rare Diseases, 6, 81.PubMedPubMedCentralCrossRefGoogle Scholar
  4. Scott, D. A. (2009). Esophageal atresia/tracheoesophageal fistula overview. In R. A. Pagon, T. D. Bird, & C. R. Dolan, et al., (Eds.), GeneReviews™ [Internet]. Seattle: University of Washington; 1993.
  5. Shaw-Smith, C., Willatt, L., & Thalange, N. (2005). Clinical Dysmorphology, 14(3), 155–158.PubMedCrossRefGoogle Scholar
  6. Zentner, G. E., Layman, W. S., Martin, D. M., et al. (2010). Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. American Journal of Medical Genetics. Part A, 152A(3), 674–686.PubMedPubMedCentralCrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  1. 1.Departamento de Pediatria, Faculdade de Medicina de LisboaServiço de Genética Médica, Hospital Universitário de Santa Maria/CHLNLisbonPortugal
  2. 2.Unidade de Gastrenterologia Pediátrica, Departamento de Pediatria, Faculdade de Medicina de LisboaHospital Universitário de Santa Maria/CHLNLisbonPortugal