CHARGE Syndrome

Living reference work entry

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

Urea Osteoporosis Creatinine Retina Cataract 

References

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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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