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CHARGE Syndrome

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Abstract

CHARGE syndrome is a genetic disorder characterized by a specific and a recognizable pattern of anomalies, namely, coloboma, heart defects, atresia of choana, retardation of growth and/or development, genitourinary defects, and ear anomalies and/or deafness. The pattern of anomalies associated with CHARGE syndrome was described independently by Hall and Hittner et al. in 1979 (Hall 1979; Hittner et al. 1979). However, the acronym “CHARGE association” was coined by Pagon in 1981 (Pagon 1981). At present, with its recognizable pattern and definition, CHARGE is referred to as a syndrome (Pampal 2010; Zentner et al. 2010). The prevalence is estimated to be approximately 1 in 10,000 (Jongmans et al. 2006; Lalani et al. 2006).

Keywords

  • Choanal Atresia
  • Charge Syndrome
  • Kallmann Syndrome
  • Cranial Nerve Dysfunction
  • Orofacial Cleft

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Correspondence to Harold Chen .

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Chen, H. (2016). CHARGE Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_38-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_38-2

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