CHARGE syndrome

A.Prof Frank Gaillard et al.

CHARGE syndrome is an acronym that classically describes a combination head and neck, cardiac, CNS and genitourinary disorders:

CHARGE syndrome is usually suspected at birth once multiple congenital abnormalities are identified. 

The diagnosis of CHARGE syndrome can be made on clinical grounds 6:

  • definite CHARGE syndrome: four major characteristics or three major characteristics and three minor characteristics
  • possible/probable CHARGE syndrome: one-to-two major characteristics and several minor characteristics
  • coloboma (~85%)
  • choanal atresia/stenosis (~55%) (or cleft palate)
  • cranial nerve dysfunction, e.g. facial palsy (~40%), dysphagia (~80%)
  • CHARGE syndrome ear (some or all of the following)
    • atretic outer ear
    • ossicular chain malformation
    • Mondini malformation
    • absent/hypoplastic semicircular canals

CHARGE syndrome is thought to occur due to a disturbance in embryonic differentiation ~35th to 45th day of gestation.

Most cases are sporadic but there are occasional autosomal dominant forms. Approximately two-thirds of cases is caused by a defect in the CHD7 gene on chromosome 8 4,7.

The prognosis is variable depending on the extent of defects. In sporadic forms, the risk of recurrence is at ~1%.

This constellation of pathology was initially described by B D Hall and separately by H M Hittner in 1979. The term "CHARGE" was first coined by R A Pagon to describe an association between the symptoms and subsequent work isolated a common genetic defect seen in 60% of individuals: the CHD7 defect.

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Article information

rID: 1029
System: Paediatrics
Section: Syndromes
Synonyms or Alternate Spellings:
  • Charge association

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