Table 4.

Comparison of Verloes (2005) and Proposed Clinical Diagnostic Criteria for CHARGE Syndrome

Verloes (2005)	Proposed Criteria
Major criteria: Ocular coloboma Choanal atresia Hypoplastic semicircular canals	Major criteria: Coloboma Choanal atresia or cleft palate Abnormal external, middle or inner ears, including hypoplastic semicircular canals Pathogenic CHD7 variant
Minor criteria: Heart or oesophagus malformation Malformation of the middle or external ear Rhombencephalic dysfunction including sensorineural hearing loss Hypothalamo-hypophyseal dysfunction (gonadotropin or growth hormone deficiency) Mental retardation	Minor criteria: Cranial nerve dysfunction including hearing loss Dysphagia/feeding difficulties Structural brain anomalies Developmental delay/ID/Autism Hypothalamo-hypophyseal dysfunction (gonadotropin or growth hormone deficiency) and genital anomalies Heart or esophagus malformation Renal anomaliesSkeletal/limb anomalies
Inclusion rule:	Inclusion rule:
Typical CHARGE: 3 major OR 2 major + 2 minor Partial CHARGE: 2 major + 1 minor Atypical CHARGE: 2 major + 0 minor OR 1 major + 3 minor	CHARGE: 2 major + any number of minor