Skip to main content
SpringerLink
Log in

CHARGE Syndrome

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

  • 381 Accesses

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. However, the acronym “CHARGE association” was coined by Pagon in 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).

Synonyms and Related Disorders

Coloboma, heart defects, atresia of choana, retardation of growth and/or development, genitourinary defects, and ear anomalies and/or deafness

Genetics/Basic Defects

  1. 1.

    Sporadic in almost all cases (Zentner et al. 2010)

  2. 2.

    Familial in a small number of cases with parent-to-child...

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Amiel, J., Attié-Bitach, T., Marianowski, R., et al. (2001). Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. American Journal of Medical Genetics, 99, 124–127.

    Article  PubMed  CAS  Google Scholar 

  • Arrington, C. B., Cowley, B. C., Nightingale, D. R., et al. (2005). Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. American Journal of Medical Genetics. Part A, 133A, 326–330.

    Article  PubMed  Google Scholar 

  • Awrich, P. D., Flannery, D. B., Robertson, L., et al. (1982). CHARGE association anomalies in siblings (abstract). American Journal of Medical Genetics, 34, 80A.

    Google Scholar 

  • Bergman, J. E., de Wijs, I., Jongmans, M. C., et al. (2008). Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. European Journal of Medical Genetics, 51, 417–425.

    Article  PubMed  Google Scholar 

  • Blake, K. D., Davenport, S. L., Hall, B. D., et al. (1998). CHARGE association: An update and review for the primary pediatrician. Clinical Pediatrics, 37, 159–173.

    Article  PubMed  CAS  Google Scholar 

  • Blake, K. D., & Prasad, C. (2006). CHARGE syndrome. Orphanet Journal of Rare Diseases, 1, 34–41.

    Article  PubMed  Google Scholar 

  • Chalouhi, C., Faulcon, P., Le Bihan, C., et al. (2005). Olfactory evaluation in children: Application to the CHARGE syndrome. Pediatrics, 116, e81–e88.

    Article  PubMed  Google Scholar 

  • Chestler, R. J., & France, T. D. (1988). Ocular findings in CHARGE syndrome. Six case reports and a review. Ophthalmology, 95, 1613–1619.

    PubMed  CAS  Google Scholar 

  • Clementi, M., Tenconi, R., Turolla, L., et al. (1991). Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome. American Journal of Medical Genetics, 41, 246–250.

    Article  PubMed  CAS  Google Scholar 

  • De Krijger, R. R., Mooy, C. M., Van Hemel, J. O., et al. (1999). CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21)(q13.1;q22.3). Pediatric and Developmental Pathology, 2, 577–581.

    Article  PubMed  Google Scholar 

  • Delahaye, A., Sznajer, Y., Lyonnet, S., et al. (2007). Familial CHARGE syndrome because of CHD7 mutation: Clinical intra- and interfamilial variability. Clinical Genetics, 72, 112–121.

    Article  PubMed  CAS  Google Scholar 

  • Dhooge, L., Lemmerling, M., Lagache, M., et al. (1998). Otological manifestations of CHARGE association. Annals of Otology, Rhinology and Laryngology, 107(pt 1), 935–941.

    CAS  Google Scholar 

  • Edwards, B. M., Kileny, P. R., & Van Riper, L. A. (2002). CHARGE syndrome: A window of opportunity for audiologic intervention. Pediatrics, 110, 119–126.

    Article  PubMed  Google Scholar 

  • Edwards, B. M., Van Riper, L. A., & Kileny, Pr. (1995). Clinical manifestations of CHARGE association. International Journal of Pediatric Otorhinolaryngology, 33, 23–42.

    Article  PubMed  CAS  Google Scholar 

  • Gennery, A. R., Slatter, M. A., & Rice, J. (2008). Mutations inCHD7 inpatients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clinical and Experimental Immunology, 153, 75–80.

    Article  PubMed  CAS  Google Scholar 

  • Graham, J. M., Jr. (2001). A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. American Journal of Medical Genetics, 99, 120–123.

    Article  PubMed  Google Scholar 

  • Hall, B. D. (1979). Choanal atresia and associated multiple anomalies. Journal of Pediatrics, 95, 395–398.

    Article  PubMed  CAS  Google Scholar 

  • Harris, J., Robert, E., & Kallen, B. (1997). Epidemiology of Choanal atresia with special reference to the CHARGE association. Pediatrics, 99, 363–367.

    Article  PubMed  CAS  Google Scholar 

  • Hittner, H. M., Hirsch, N. J., Kreh, G. M., et al. (1979). Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation-a syndrome. Journal of Pediatric Ophthalmology and Strabismus, 16, 122–128.

    PubMed  CAS  Google Scholar 

  • Hurst, J. A., Meinecke, P., & Baraitser, M. (1991). Balanced t(6;8)(6p8p6q8q) and the CHARGE association. Journal of Medical Genetics, 28, 54–55.

    Article  PubMed  CAS  Google Scholar 

  • Johnson, D., Morrison, N., Grant, L., et al. (2006). Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. Journal of Medical Genetics, 43, 280–284.

    Article  PubMed  CAS  Google Scholar 

  • Jongmans, M. C., Admiraal, R. J., van der Donk, K. P., et al. (2006). CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene. Journal of Medical Genetics, 43, 306–314.

    Article  PubMed  CAS  Google Scholar 

  • Jongmans, M. C., Hoefsloot, L. H., van der Donk, K. P., et al. (2008). Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability. American Journal of Medical Genetics. Part A, 146A, 43–50.

    Article  PubMed  CAS  Google Scholar 

  • Jongmans, M. C., van Ravenswaaij-Arts, C. M., Pitteloud, N., et al. (2009). CHD7 mutations in patients initially diagnosed with Kallmann syndrome – The clinical overlap with CHARGE syndrome. Clinical Genetics, 75, 65–71.

    Article  PubMed  CAS  Google Scholar 

  • Kaplan, L. C. (1985). Choanal atresia and its associated anomalies. Further support for the CHARGE association. International Journal of Pediatric Otorhinolaryngology, 8, 237–242.

    Article  PubMed  CAS  Google Scholar 

  • Kim, H.-G., Kurth, I., Lan, F., et al. (2008). Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Journal of Human Genetics, 83, 511–519.

    Article  PubMed  CAS  Google Scholar 

  • Lalani, S. R., Hefner, M. A., Belmont, J. N., et al. (2009). CHARGE syndrome. GeneReview. Updated Sept 22, 2009. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=charge

  • Lalani, S. R., Safiullah, A. M., Fernbach, S. D., et al. (2006). Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. American Journal of Human Genetics, 78, 303–314.

    Article  PubMed  CAS  Google Scholar 

  • Lev, D., Nakar, O., Bar-Am, I., et al. (2000). CHARGE association in a child with de novo chromosomal aberration 46,X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping. Journal of Medical Genetics, 37, e47.

    Article  PubMed  CAS  Google Scholar 

  • Lubinsky, M. S. (1994). Properties of associations: Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations. American Journal of Medical Genetics, 49, 21–25.

    Article  PubMed  CAS  Google Scholar 

  • Metlay, L. A., Smythe, P. S., & Miller, M. E. (1999). Familial CHARGE association: Clinical report with autopsy findings. American Journal of Medical Genetics, 26, 577–581.

    Article  Google Scholar 

  • Mitchell, J. A., Giangiacomo, J., Hefner, M. A., et al. (1985). Dominant CHARGE association. Ophthalmolic Paediatrics Genetics, 6, 271–276.

    CAS  Google Scholar 

  • Morgan, D. W., Bailey, C. M., Phelps, P., et al. (1993). Ear-nose-throat abnormalities in the CHARGE association. Archives of Otolaryngology – Head & Neck Surgery, 119, 49–54.

    Article  CAS  Google Scholar 

  • Murofoshi, T., Ouvrier, R. A., Parker, G. D., et al. (1997). Vestibular anomalies in CHARGE association. Annals of Otology, Rhinology and Laryngology, 106, 129–134.

    Google Scholar 

  • North, K. N., Wu, B. L., Cao, B. N., et al. (1995). CHARGE association in a child with de novo inverted duplication (14)(q22 > q24.3). American Journal of Medical Genetics, 57, 610–614.

    Article  PubMed  CAS  Google Scholar 

  • Ogata, T., Fujiwara, I., Ogawa, E., et al. (2006). Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocrine Journal, 53, 741–743.

    Article  PubMed  CAS  Google Scholar 

  • Pagon, R. A., Graham, J. M. Jr., & Zonana, J. (1981). Coloboma, congenital heart disease, and Choanal atresia with multiple anomalies: CHARGE association. Journal of Pediatrics, 99, 223–227.

    Article  PubMed  CAS  Google Scholar 

  • Pampal, A. (2010). CHARGE: An association or a syndrome? International Journal of Pediatric Otorhinolaryngology, 74(7), 719–722.

    Article  PubMed  Google Scholar 

  • Pauli, S., Pieper, L., Haberle, J., et al. (2009). Proven germline mosaicism in a father of two children with CHARGE syndrome. Clinical Genetics, 75, 473–479.

    Article  PubMed  CAS  Google Scholar 

  • Russell-Eggitt, J. M., Blake, K. D., Taylor, D. S. L., et al. (1990). The eye in CHARGE association. British Journal of Ophthalmology, 74, 421–426.

    Article  PubMed  CAS  Google Scholar 

  • Sanka, M., Tangsinmankong, N., Loscalzo, M., et al. (2007). Complete DiGeorge syndrome associated with CHD7 mutation. The Journal of Allergy and Clinical Immunology, 120, 952–954.

    Article  PubMed  CAS  Google Scholar 

  • Sanlaville, D., Romana, S. P., Lapierre, J. M., et al. (2002). A CGH study of 27 patients with CHARGE association. Clinical Genetics, 62, 135–138.

    Article  Google Scholar 

  • Sanlaville, D., & Verloes, A. (2007). CHARGE syndrome: An update. European Journal of Human Genetics, 15, 389–399.

    Article  PubMed  CAS  Google Scholar 

  • Siebert, J. R., Graham, J. M., & MacDonald, C. (1985). Pathological features of the CHARGE association: Support for involvement of the neural crest. Teratology, 31, 331–336.

    Article  PubMed  CAS  Google Scholar 

  • Tellier, A. L., Amiel, J., Delezoide, A. L., et al. (2000). Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. American Journal of Medical Genetics, 93, 85–88.

    Article  PubMed  CAS  Google Scholar 

  • Tellier, A. L., Lyonnet, S., Cormier-Daire, V., et al. (1996). Increased paternal age in CHARGE association. Clinical Genetics, 50, 548–550.

    Article  PubMed  CAS  Google Scholar 

  • Tellier, A. L., Theopile, D., Bonner, D., et al. (1996). CHARGE association: Report of 47 cases with genotypic analysis of chromosomes 7q36 and 22q11. American Journal of Human Genetics, 59(suppl), 100A.

    Google Scholar 

  • Telllier, A. L., Cormier-Daire, V., Abadie, V., et al. (1998). CHARGE association: Report of 47 cases and review. American Journal of Medical Genetics, 76, 402–409.

    Article  Google Scholar 

  • Thelin, J. W., Mitchell, J. A., & Hefner, M. A. (1986). CHARGE syndrome: Part II. Hearing loss. International Journal of Pediatric Otorhinolaryngology, 12, 145–163.

    Article  PubMed  CAS  Google Scholar 

  • Verloes, A. (2005). Updated diagnostic criteria for CHARGE syndrome: A proposal. American Journal of Medical Genetics. Part A, 133A, 306–308.

    Article  PubMed  Google Scholar 

  • Vissers, L. E., von Ravenswaaij, C. M., Admiraal, R., et al. (2004). Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics, 36, 955–957.

    Article  PubMed  CAS  Google Scholar 

  • Vuorela, P. E., Penttinen, M. T., Hietala, M. H., et al. (2008). A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. Clinical Dysmorphology, 17, 249–253.

    Article  PubMed  Google Scholar 

  • Warburg, M. (1983). Ocular colobomata and multiple congenital anomalies: The CHARGE association. Ophthalmolic Paediatrics Genetics, 6, 31–36.

    Google Scholar 

  • Wieczorek, D., Bolt, J., Schwechheimer, K., et al. (1997). A patient with interstitial deletion of the short arm of chromosome 3 (pterrarrp21.2::p12rarrqter) and a CHARGE-like phenotype. American Journal of Medical Genetics. Part A, 69A, 413–417.

    Google Scholar 

  • Wiener-Vacher, S. R., Amanou, L., Denixe, P., et al. (1999). Vestibular function in children with the CHARGE association. Archives of Otolaryngology – Head & Neck Surgery, 125, 342–347.

    CAS  Google Scholar 

  • Wincent, J., Holmberg, E., Stromland, K., et al. (2008). CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. Clinical Genetics, 74, 31–38.

    Article  PubMed  CAS  Google Scholar 

  • Wincent, J., Schulze, A., & Schoumans, J. (2009). Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. European Journal of Medical Genetics, 52, 271–272.

    Article  PubMed  Google Scholar 

  • 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, 674–686.

    Article  PubMed  CAS  Google Scholar 

Download references

Editor information

Editors and Affiliations

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

    Harold Chen

Rights and permissions

Reprints and permissions

Copyright information

© 2012 Springer Science+Business Media, LLC

About this entry

Cite this entry

(2012). CHARGE Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_38

Download citation

Publish with us

Policies and ethics

Search

Navigation