CHARGE Syndrome Follow-up

Updated: Apr 05, 2016
  • Author: David H Tegay, DO, FACMG; Chief Editor: Maria Descartes, MD  more...
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Follow-up

Further Outpatient Care

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  • Long-term coordination of care is necessary in patients with CHARGE syndrome.
  • Ensure follow-up care and recognition and prevention of complications.
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Transfer

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  • A tertiary hospital with appropriate pediatric subspecialists should coordinate and undertake care.
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Complications

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  • Eye - Corneal ulceration, retinal detachment
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Patient Education

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  • Families of patients with CHARGE syndrome require education regarding the disease manifestations and potential complications.
  • Discuss the genetic basis of the disorder and include the 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.
  • Familial cases do occur; although autosomal dominant heritance with variable expression is rare, it does occur.
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