eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

CHARGE Syndrome: Follow-up

Author: David H Tegay, DO, FACMG, Associate Professor of Medicine and Medical Genetics, New York College of Osteopathic Medicine at the New York Institute of Technology; Assistant Professor of Pediatrics, Stony Brook University Medical Center
Coauthor(s): Jamie C Yedowitz, New York College of Osteopathic Medicine of the New York Institute of Technology
Contributor Information and Disclosures

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.
 
Acknowledgments

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
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References

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Further Reading

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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

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Contributor Information and Disclosures

Author

David H Tegay, DO, FACMG, Associate Professor of Medicine and Medical Genetics, New York College of Osteopathic Medicine at the New York Institute of Technology; Assistant Professor of Pediatrics, Stony Brook University Medical Center
David H Tegay, DO, FACMG is a member of the following medical societies: American College of Medical Genetics, American College of Osteopathic Internists, American College of Physicians, American Medical Association, American Osteopathic Association, American Society of Human Genetics, and Federation of American Societies for Experimental Biology
Disclosure: Nothing to disclose.

Coauthor(s)

Jamie C Yedowitz, New York College of Osteopathic Medicine of the New York Institute of Technology
Disclosure: Nothing to disclose.

Medical Editor

Elaine H Zackai, MD, Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia
Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American College of Medical Genetics, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Leonard G Feld, MD, PhD, MMM, FAAP, Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center
Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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