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OrphanAnesthesia
M. Laschat

CHARGE syndrome

CHARGE syndrome

Schlüsselwörter CHARGE syndrome; ICD 10: Q87.8; CHARGE association; Hall-Hittner syndrome; Coloboma, Heart defect, Atresia choanae (choanal atresia), Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness
Keywords CHARGE syndrome; ICD 10: Q87.8; CHARGE association; Hall-Hittner syndrome; Coloboma, Heart defect, Atresia choanae (choanal atresia), Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness
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Summary

In 1998, an expert group defined the major (the classical 4C´s: Choanal atresia, Coloboma, Characteristic ear and Cranial nerve anomalies) and minor criteria of CHARGE syndrome [1]. In 2004, mutations in the CHD7 gene were identified as the major cause. The inheritance pattern is autosomal dominant with variable expressivity. Almost all mutations occurs de novo, but parent-to-child transmission has occasionally been reported [2].

Clinical criteria for CHARGE syndrome [1]

Major criteria:

  • Coloboma
  • Choanal Atresia
  • Cranial nerve anomalies
  • Abnormalities of the inner, middle, or external ear

Minor criteria:

  • Cardiaovascular malformations
  • Genital hypoplasia or delayed pubertal development
  • Cleft lip and/or palate
  • Tracheoesophageal defects
  • Distinctive CHARGE facies
  • Growth retardation
  • Developmental delay

Occasional:

  • Renal anomalies: duplex system, vesicoureteric reflux
  • Spinal anomalies: scoliosis, osteoporosis
  • Hand anomalies
  • Neck/shoulder anomalies
  • Immune system disorders

Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome [1].

CHARGE syndrome occurs in approximately 1 in 10000 newborns [3]. In more than 90% of patients fulfilling the clinical criteria for CHARGE syndrome mutations in the CHD7 gene in chromosome 8q12 can be detected [4].

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