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Yang, C. CHARGE Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5059 (accessed on 22 September 2026).
Yang C. CHARGE Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5059. Accessed September 22, 2026.
Yang, Catherine. "CHARGE Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5059 (accessed September 22, 2026).
Yang, C. (2020, December 24). CHARGE Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5059
Yang, Catherine. "CHARGE Syndrome." Encyclopedia. Web. 24 December, 2020.
CHARGE Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/charge-syndrome

CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. Affected individuals usually have several major characteristics or a combination of major and minor characteristics.

genetic conditions

References

  1. Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, vanRavenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinicalimplications of an expanding phenotype. J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106.
  2. Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis. 2006 Sep 7;1:34.Review.
  3. Hale CL, Niederriter AN, Green GE, Martin DM. Atypical phenotypes associatedwith pathogenic CHD7 variants and a proposal for broadening CHARGE syndromeclinical diagnostic criteria. Am J Med Genet A. 2016 Feb;170A(2):344-354. doi:10.1002/ajmg.a.37435.
  4. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA,Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Spectrum of CHD7mutations in 110 individuals with CHARGE syndrome and genotype-phenotypecorrelation. Am J Hum Genet. 2006 Feb;78(2):303-14.
  5. Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M,Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C,Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y,Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M,Attié-Bitach T. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7truncating mutations correlates with expression during human development. J MedGenet. 2006 Mar;43(3):211-217.
  6. Sanlaville D, Verloes A. CHARGE syndrome: an update. Eur J Hum Genet. 2007Apr;15(4):389-99.
  7. van Ravenswaaij-Arts CM, Hefner M, Blake K, Martin DM. CHD7 Disorder. 2006 Oct2 [updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1117/
  8. Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am JMed Genet A. 2005 Mar 15;133A(3):306-8.
  9. Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypicaspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A. 2010Mar;152A(3):674-86. doi: 10.1002/ajmg.a.33323. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 957
Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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