Table 1.

Clinical diagnosis of CHARGE syndrome according to the criteria of Blake et al. [1998] and Verloes [2005]

	Major criteria	Minor criteria	Inclusion rule
Blake et al. [1998]	1.Coloboma: iris, retina, choroid, or disc microphthalmia 2.Choanal atresia: –unilateral/bilateral –membranous/bony –stenosis/atresia 3.Ear abnormalities –external ear –middle ear (ossicles) –inner ear (cochlea and vestibular system) 4.Cranial nerve dysfunction (I: anosmia, VII: facial palsy, VIII: sensorineural deafness and vestibular problems, IX and/or X: swallowing problems)	1.Genital hypoplasia (micropenis, cryptorchidism, hypoplastic labia, delayed/incomplete pubertal development) 2.Developmental delay (hypotonia, language delay, intellectual disability) 3.Cardiovascular malformations (including conotruncal defects such as tetralogy of Fallot, auriculoventricular canal defects and aortic arch anomalies) 4.Growth deficiencies (short stature) 5.Orofacial cleft (cleft lip and/or palate) 6.Tracheoesophageal fistula 7.Characteristic face	4 majors or 3 majors + 3 minors
Verloes [2005]	1.Coloboma (iris or choroid, with or without microphthalmia) 2.Atresia of choanae 3.Hypoplastic semi-circular canals	1.Rhombecephalic dysfunction (brainstem dysfunctions, cranial nerve VII to XII palsies and neurosensory deafness) 2.Hypothalamo-hypophyseal dysfunction (including growth hormone and gonadotropin defects) 3.Malformation of the ear (middle or external) 4.Malformation of mediastinal organs (heart, esophagus) 5.Intellectual disability	Typical CHARGE: 3 majors or 2 majors + 2 minors Partial CHARGE: 2 majors + 1 minor Atypical CHARGE: 2 majors but no minors or 1 major + 3 minors