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CHARGE syndrome.

Kim D Blake1, Chitra Prasad

  • 1Department of Pediatrics, IWK Health Centre, Dalhousie University, Canada. kblake@dal.ca

Orphanet Journal of Rare Diseases
|September 9, 2006
PubMed
Summary
This summary is machine-generated.

CHARGE syndrome is a genetic disorder affecting multiple body systems, including eyes, heart, and ears. Early intervention and multidisciplinary care are crucial for managing this complex condition.

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Area of Science:

  • Genetics and Developmental Biology
  • Pediatrics
  • Ophthalmology

Background:

  • CHARGE syndrome is a complex genetic disorder characterized by a constellation of congenital anomalies.
  • Diagnostic criteria have evolved, with major and minor criteria established, though genetic identification sometimes occurs without classical features like choanal atresia and coloboma.
  • The incidence ranges from 0.1-1.2/10,000, influenced by diagnostic recognition.

Purpose of the Study:

  • To provide a comprehensive overview of CHARGE syndrome, encompassing its definition, diagnostic criteria, clinical manifestations, genetic basis, and management strategies.
  • To highlight the variability in presentation and the importance of recognizing less common features.
  • To emphasize the need for multidisciplinary care and early intervention for feeding and behavioral challenges.

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Main Methods:

  • Review of existing literature and diagnostic criteria for CHARGE syndrome.
  • Analysis of reported incidence rates and genetic findings.
  • Compilation of common and less common clinical features, including cardiac, ocular, auditory, and neurological abnormalities.
  • Discussion of management approaches, including surgical interventions and specialized therapies.

Main Results:

  • CHARGE syndrome involves anomalies in multiple systems: Coloboma (primarily retinal), congenital heart defects (e.g., tetralogy of Fallot), choanal atresia, growth and developmental issues, genital hypoplasia, and ear anomalies with hearing loss.
  • Cranial nerve dysfunctions are frequent, and a distinct behavioral phenotype is recognized.
  • Mutations in the CHD7 gene are identified in over 75% of affected individuals.
  • Feeding difficulties and challenging behaviors are significant aspects requiring specialized management.

Conclusions:

  • CHARGE syndrome requires intensive medical and surgical management, alongside consistent multidisciplinary follow-up.
  • Early and aggressive intervention by feeding teams is essential for nutritional and developmental progress.
  • Adaptation of educational and therapeutic services, including behavioral and pharmacological approaches, is necessary to address developmental and behavioral challenges as the child grows.