Table 1 Updated diagnostic criteria for CHARGE syndrome.

Verloes11 (typical CHARGE = 3 major criteria or 2 major and 2 minor criteria)	Blake et al9 (all 4 major criteria, or 3 major and 3 minor criteria)
Major criteria	Major criteria
1) Coloboma (iris or choroid, with or without microphthalmia)	1) Coloboma (iris, retina, choroid, optic disc, or microphthalmia)
2) Atresia of choanae	2) Atresia of choanae
3) Hypoplastic semicircular canals	3) Cranial nerve dysfunction ‐ I: anosmia, VII: facial palsy, VIII: sensorineural deafness and vestibular problems, IX and/or X: swallowing problems
	4) Characteristic external ears (absent or hypoplastic lobes, asymmetry, decreased cartilaginous folds, and triangular concha) and inner ear anomalies (temporal bone findings with cochlear hypoplasia and or absent/hypoplastic semicircular canals)
Minor criteria	Minor criteria
1) Rhombencephalic dysfunction (brainstem dysfunctions, cranial nerve VII to XII palsies, and neurosensory deafness)	1) Characteristic facial features ‐ broad, sloping forehead, laterally protruding ears, small mouth, and high nasal bridge
2) Malformation of mediastinal organs (heart, oesophagus)	2) Congenital cardiovascular malformations of all types
3) Hypothalamo‐hypophyseal dysfunction (including GH and gonadotrophin deficiencies) 4) Abnormal middle or external ear 5) Mental retardation	3) Tracheo‐oesophageal fistula 4) Growth deficiency 5) Genital hypoplasia ‐ micropenis and/or cryptorchidism or hypoplastic labia. Delayed, incomplete pubertal development
	6) Orofacial cleft
	7) Developmental delay: delayed motor milestones, hypotonia, mental retardation