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Atlas of Genetic Diagnosis and Counseling pp 1–9Cite as

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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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. 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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