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CHARGE syndrome

ORPHA138
Synonym(s) CHARGE association
Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities
Hall-Hittner syndrome
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Neonatal
ICD-10
  • Q87.8
OMIM
UMLS
  • C0265354
MeSH
  • D058747
MedDRA
  • 10064063

Summary

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).

The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition.

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.Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 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.

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.

Expert reviewer(s)

  • Dr Kim BLAKE
  • Dr Chitra PRASAD

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Detailed information

Anesthesia guidelines
  • EN (2011,pdf)
Review article
  • EN (2006)
Practical genetics
  • EN (2007,pdf)
Guidance for genetic testing
  • EN (2011,pdf)
Article for general public
  • FR (2008,pdf)
  • EN (2013)
Clinical genetics review
  • EN (2012)
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.