CHARGE syndrome - PubMed (original) (raw)
Review
CHARGE syndrome
Kim D Blake et al. Orphanet J Rare Dis. 2006.
Abstract
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1-1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75-80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions.
Figures
Figure 1
CHARGE syndrome: unusually shaped ears showing cochlear transplant.
Similar articles
- CHARGE syndrome: 2005.
Carey JC. Carey JC. Am J Med Genet A. 2005 Mar 15;133A(3):227. doi: 10.1002/ajmg.a.30540. Am J Med Genet A. 2005. PMID: 15633196 No abstract available. - CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE. Jyonouchi S, et al. Pediatrics. 2009 May;123(5):e871-7. doi: 10.1542/peds.2008-3400. Pediatrics. 2009. PMID: 19403480 Free PMC article. - [Molecular diagnosis of CHARGE syndrom].
Pedersen AM, Skovby F. Pedersen AM, et al. Ugeskr Laeger. 2007 Jan 29;169(5):402-6. Ugeskr Laeger. 2007. PMID: 17280632 Review. Danish. - Speculations on the pathogenesis of CHARGE syndrome.
Williams MS. Williams MS. Am J Med Genet A. 2005 Mar 15;133A(3):318-25. doi: 10.1002/ajmg.a.30561. Am J Med Genet A. 2005. PMID: 15637730 - [The CHARGE syndrome].
Klingenberg C, Andersen WH. Klingenberg C, et al. Tidsskr Nor Laegeforen. 2008 Jun 12;128(12):1401-5. Tidsskr Nor Laegeforen. 2008. PMID: 18552902 Review. Norwegian.
Cited by
- Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description.
Saenz Hinojosa S, Reyes C, Romero VI. Saenz Hinojosa S, et al. Heliyon. 2024 Mar 15;10(6):e28024. doi: 10.1016/j.heliyon.2024.e28024. eCollection 2024 Mar 30. Heliyon. 2024. PMID: 38545186 Free PMC article. - CHARGE syndrome with early fetal ear abnormalities: A case report.
Liang Y, He S, Yang L, Li T, Zhao L, Sun CX. Liang Y, et al. Clin Case Rep. 2024 Mar 18;12(3):e8670. doi: 10.1002/ccr3.8670. eCollection 2024 Mar. Clin Case Rep. 2024. PMID: 38505478 Free PMC article. - CHD7 regulates craniofacial cartilage development via controlling HTR2B expression.
Breuer M, Rummler M, Singh J, Maher S, Zaouter C, Jamadagni P, Pilon N, Willie BM, Patten SA. Breuer M, et al. J Bone Miner Res. 2024 May 2;39(4):498-512. doi: 10.1093/jbmr/zjae024. J Bone Miner Res. 2024. PMID: 38477756 Free PMC article. - Prevalence and descriptive epidemiology of choanal atresia and stenosis in Texas, 1999-2018.
Benjamin RH, Marengo LK, Scheuerle AE, Agopian AJ, Mitchell LE. Benjamin RH, et al. Am J Med Genet A. 2024 Jun;194(6):e63549. doi: 10.1002/ajmg.a.63549. Epub 2024 Feb 5. Am J Med Genet A. 2024. PMID: 38314656 - Effects of 4 Testing Arena Sizes and 11 Types of Embryo Media on Sensorimotor Behaviors in Wild-Type and chd7 Mutant Zebrafish Larvae.
Hodorovich DR, Fryer Harris T, Burton DF, Neese KM, Bieler RA, Chudasama V, Marsden KC. Hodorovich DR, et al. Zebrafish. 2024 Feb;21(1):1-14. doi: 10.1089/zeb.2023.0052. Epub 2024 Feb 1. Zebrafish. 2024. PMID: 38301171
References
- Hittner H, Hirsch N, Kreh G, Rudolph A. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation: a syndrome. J Pediatr Ophthalmol Strabismus. 1979;16:122–128. - PubMed
- Blake KD, Davenport SLH, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham JM., Jr CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37:159–173. - PubMed
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Research Materials