Table 1.

Characteristics of CHARGE syndrome

a. Major and minor signs of CHARGE syndrome [2]

Major signs

Coloboma (iris or choroid, with or without microphthalmia)

Atresia of choanae

Hypoplastic semicircular canals

Minor signs

Rhombencephalic dysfunction (brainstem dysfunctions, cranial nerve VII to XII palsies and neurosensory deafness)

Hypothalamo-hypophyseal dysfunction (including GH and gonadotrophin deficiencies)

Abnormal middle or external ear

Malformation of mediastinal organs (heart, oesophagus)

Intellectual disability

b. Definition of typical, atypical, and partial CHARGE syndrome [2]

Typical CHARGE syndrome

3 major signs

2/3 major signs + 2/5 minor signs

Partial/incomplete CHARGE

2/3 major  signs + 1/5 minor signs

Atypical CHARGE

2/3 major  signs +  0/5 minor signs

1/3 major signs +  3/5 minors signs