Table 1 Typical features of CHARGE syndrome and patient’s neonatal manifestations

Ocular coloboma

Bilateral coloboma

Choanal atresia/stenosis

n/p

Cranial nerve dysfunction/anomaly

Agenesis of olfactory bulbs, thinning of optic nerves, bilateral sensorineural hypoacusis, vocal cord adductors and velopharyngeal sphincter hypotonia

Ear malformations

Dysplastic auricles, middle ear anomalies, absence of semicircular canals

Cleft lip and/or palate

n/p

Tracheoesophageal anomalies

n/p

Endocrine manifestations

Central hypoadrenalism, low gonadotropins and estrogens

Genital hypoplasia

n/p

Cardiovascular malformations

Ostium secundum ASD, PDA

Brain anomalies

Dysmorphic corpus callosum, cerebellum and pons

Renal anomalies

n/p

Developmental delay/intellectual disability

n/a