eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics
CHARGE Syndrome: Follow-up
Updated: Nov 13, 2009
Follow-up
Further Outpatient Care
- Long-term coordination of care is necessary in patients with CHARGE syndrome.
- Ensure follow-up care and recognition and prevention of complications.
Transfer
- A tertiary hospital with appropriate pediatric subspecialists should coordinate and undertake care.
Complications
- Eye - Corneal ulceration, retinal detachment
Patient Education
- Families of patients with CHARGE syndrome require education regarding the disease manifestations and potential complications.
- A discussion of the genetic basis of the disorder should include recurrence risks (1-2% for unaffected parents, as much as 50% for affected individuals).
- Genetic counseling should be made available for individuals at increased risk for affected offspring to explain options in future pregnancies, including prenatal and preimplantation genetic diagnosis.
Miscellaneous
Medicolegal Pitfalls
- Mental retardation is not universal in CHARGE syndrome. Developmental outcomes can be maximized with early and accurate diagnosis, early intervention and appropriate therapy so that the individuals fullest developmental potential can be realized. Particularly, failure to monitor in an ongoing fashion for visual and auditory disabilities may result in increased developmental delay.
- Various clinics (eg, otolaryngology, neurology, audiology, ophthalmology) individually follow up with many patients. Failure to consider CHARGE syndrome may lead to missing the involvement of other organs, especially eyes and ears and, thus, a delay in correcting those defects.
- Failure to counsel parents concerning prognosis, recurrence risks, and prenatal and preimplantation diagnostic options is a pitfall.
The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Venkataraman Krishnan, MBBS, DCH, MRCP, FAAP, MD to the development and writing of this article.
More on CHARGE Syndrome |
| Overview: CHARGE Syndrome |
| Differential Diagnoses & Workup: CHARGE Syndrome |
| Treatment & Medication: CHARGE Syndrome |
Follow-up: CHARGE Syndrome |
| Multimedia: CHARGE Syndrome |
| References |
| « Previous Page | Next Page » |
References
Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. Sep 2004;36(9):955-7. [Medline].
[Guideline] Pagon RA, Graham JM Jr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. Aug 1981;99(2):223-7. [Medline].
[Guideline] Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila). Mar 1998;37(3):159-73. [Medline].
[Guideline] Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. Mar 15 2005;133A(3):306-8. [Medline].
Jones KL. CHARGE association. In: Smith's Recognizable Patterns of Human Malformation. 5th ed. WB Saunders Co; 1997:668-70.
Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr. Mar 2006;148(3):410-4. [Medline].
Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet. Nov 1 1991;41(2):246-50. [Medline].
North KN, Wu BL, Cao BN, Whiteman DA, Korf BR. CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3). Am J Med Genet. Jul 17 1995;57(4):610-4. [Medline].
Lev D, Nakar O, Bar-Am I, Zudik A, Watemberg N, Finkelstien S. CHARGE association in a child with de Novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping. J Med Genet. Dec 2000;37(12):E47. [Medline].
Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW. SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet. Jul 2004;41(7):e94. [Medline].
Williams MS. Speculations on the pathogenesis of CHARGE syndrome. Am J Med Genet A. Mar 15 2005;133A(3):318-25. [Medline].
Sanlaville D, Etchevers HC, Gonzales M, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. Mar 2006;43(3):211-317. [Medline].
Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A. Mar 15 2005;133A(3):309-17. [Medline].
Kallen K, Robert E, Mastroiacovo P, et al. CHARGE Association in newborns: a registry-based study. Teratology. Dec 1999;60(6):334-43. [Medline].
Blake KD, Russell-Eggitt IM, Morgan DW, Ratcliffe JM, Wyse RK. Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch Dis Child. Feb 1990;65(2):217-23. [Medline].
Tellier AL, Cormier-Daire V, Abadie V, et al. CHARGE syndrome: report of 47 cases and review. Am J Med Genet. Apr 13 1998;76(5):402-9. [Medline].
Jongmans MC, Admiraal RJ, van der Donk KP, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. Apr 2006;43(4):306-14. [Medline].
Davenport SL, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet. Apr 1986;29(4):298-310. [Medline].
Lalani SR, Safiullah AM, Fernbach SD, et al. Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation. Am J Hum Genet. Feb 2006;78(2):303-14. [Medline].
Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. Eur J Med Genet. Sep-Oct 2008;51(5):417-25. [Medline].
Udaka T, Okamoto N, Aramaki M, Torii C, Kosaki R, Hosokai N. An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. Am J Med Genet A. Apr 1 2007;143(7):721-6. [Medline].
Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, et al. Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes. J Med Genet. Jul 2008;45(7):432-7. [Medline].
Writzl K, Cale CM, Pierce CM, Wilson LC, Hennekam RC. Immunological abnormalities in CHARGE syndrome. Eur J Med Genet. Sep-Oct 2007;50(5):338-45. [Medline].
Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, et al. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol. Jul 2008;153(1):75-80. [Medline].
Arndt S, Laszig R, Beck R, et al. Spectrum of Hearing Disorders and Their Management in Children With CHARGE Syndrome. Otol Neurotol. Oct 16 2009;[Medline].
Further Reading
Keywords
CHARGE syndrome, coloboma, heart anomalies, choanal atresia, retardation of growth and development, genital and ear anomalies, CHARGE Association, CHD-7 spectrum disorder, treatment, diagnosis, symptoms
Follow-up: CHARGE Syndrome