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[The CHARGE syndrome]

Claus Klingenberg1, Wenche Helene Andersen

  • 1Barne- og ungdomsklinikken Universitetssykehuset Nord-Norge 9038 Tromsø og Barneavdelingen Institutt for klinisk medisin Universitetet i Tromsø. claus.klingenberg@unn.no

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|June 17, 2008
PubMed

Insights

CHARGE syndrome, a rare congenital condition, presents with multiple malformations including Coloboma, Heart defects, Atresia choanae, Retarded growth, Genital anomalies, and Ear anomalies. Early diagnosis and multidisciplinary management are crucial for affected individuals.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • CHARGE syndrome is a rare congenital disorder characterized by multiple anomalies.
  • The acronym CHARGE represents key features: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital anomalies, and Ear anomalies/deafness.

Purpose of the Study:

  • To provide an updated overview of CHARGE syndrome.
  • Focus on clinical presentation, genetic factors, and behavioral aspects.
  • Offer recommendations for multidisciplinary management.

Main Methods:

  • Literature review of PubMed-indexed articles.
  • Inclusion of authors' clinical experience with CHARGE syndrome patients.

Main Results:

  • Estimated incidence of CHARGE syndrome is 1 in 10,000 births.
  • CHD7 gene mutations identified in approximately 60% of cases.
  • Key malformations include the 3C-triad (Coloboma, Choanal atresia, semicircular Canal anomalies), cardiovascular, and respiratory defects.
  • Cranial nerve dysfunctions are common, leading to sensory impairments (vision, hearing) and facial palsy.
  • Intellectual impairment varies, with some patients exhibiting distinct behavioral profiles and cognitive issues.

Conclusions:

  • CHARGE syndrome necessitates coordinated, multidisciplinary medical follow-up.
  • Combined sensory loss in CHARGE syndrome patients may benefit from specialized rehabilitation programs.
  • Early identification and management are vital for improving outcomes in individuals with CHARGE syndrome.
Abstract

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