Diagnostic criteria for CHARGE syndrome
| Diagnostic Characteristics | Manifestations |
|---|---|
| Major criteria | |
| Ocular coloboma | Coloboma of the iris, retina, choroid, disc; microphthalmos |
| Choanal atresia or stenosis | Unilateral or bilateral, bony or membranous, atresia or stenosis |
| Cranial nerve dysfunction or anomaly | I, Hyposmia or anosmia |
| VII, Facial palsy (unilateral or bilateral) | |
| VIII, Hypoplasia of auditory nerve | |
| IX/X, Swallowing problems with aspiration | |
| CHARGE syndrome ear | Outer ear: short, wide ear with little or no lobe, “snipped off” helix, prominent antihelix that is often discontinuous with tragus, triangular concha, decreased cartilage; often protruding and usually asymmetric |
| Middle ear: ossicular malformations | |
| Cochlea: incomplete partition | |
| Vestibular apparatus: absent or hypoplastic semicircular canals | |
| Minor criteria | |
| Genital hypoplasia | Males: micropenis, cryptorchidism |
| Females: hypoplastic labia | |
| Developmental delay | Delayed milestones, hypotonia |
| Cardiovascular malformation | Conotruncal defects (eg, tetralogy of Fallot), atrioventricular canal defects, aortic arch anomalies |
| Growth deficiency | Short stature, usually postnatal with or without growth hormone deficiency |
| Orofacial cleft | Cleft lip and/or palate |
| Tracheoesophageal fistula | Tracheoesophageal defects of all types |
| Distinctive facial features | Square face with broad prominent forehead, prominent nasal bridge and columella, flat midface |