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Table 1 Diagnostic criteria for CHARGE syndrome

From: Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis

 

Pagon et al. [2]

Blake et al. [3]

Verloes [4]

Hale et al. [5]

Major criteria

Choanal atresia

Ocular coloboma

Ocular coloboma

Choanal atresia or stenosis

Cranial nerve anomalies

Characteristic ears anomalies

Ocular Coloboma

Choanal atresia

Hypoplasia of the semicircular canals

Coloboma

Choanal atresia or cleft pallet

Abnormal external, middle, or inner ears

Pathogenic CHD7 variant

Minor criteria

Heart defect

Retardationa (of growth or development)

Genital anomalies

Ear anomalies

Characteristic CHARGE facies

Cardiovascular malformations

Tracheoesophageal fistula

Growth deficiency

Genital hypoplasia

Cleft lip or palate

Developmental delay

Rhombencephalic dysfunction

Hypothalamo-hypophyseal dysfunction

Abnormal external or internal ear

Malformation of mediastinal organs

Mental retardationa

Cranial nerve dysfunction (including hearing loss)

Dysphagia or feeding difficulties

Structural brain anomalies

Developmental delay, intellectual disability, or autism

Hypothalamo-hypophyseal dysfunction, genital anomalies

Heart or oesophageal malformation

Renal anomalies skeletal or limb anomalies

Occasional findings

 

Renal anomalies

Spinal anomalies

Hand anomalies

Neck/shoulder anomalies

  

Inclusion rule

Four criteria, including one major criteria

Four major criteria or three major and three minor criteria

Typical CHARGE: Three major or two major and two minor criteria

Partial CHARGE: Two major and one minor criteria

Atypical CHARGE: Two major but no minor or one major and two minor criteria

Two major and any minor criteria

  1. a“Mental retardation” is an archaism superseded by DSM-5 intellectual disability/intellectual developmental disorder or ICD-11 disorders of intellectual development