Percent*
| 80% | Coloboma - ranging from isolated iris coloboma, without visual impairment, to clinical anophthalmos; retinal coloboma most common. |
| Heart defect - tetralogy of Fallot, patent ductus arteriosus, double outlet right ventricle with an atrioventricular canal, ventricular septal/atrial septal defect, right-sided aortic arch. | |
| 58% | Atresia choanae - passageway from posterior nasal cavity into the nasopharynx closed, membranous and/or bony. |
| 87% | Retarded physical growth and/or mental development (usually normal birth weight, but delayed growth during the first 6 months post-natally); CNS deficiency |
| 75% | Genital hypoplasia - hypogonadism, especially in males. |
| 88% | Ear anomalies and/or deafness - ranging from small ears without malformation, to cup-shaped lop ears; either sensorineural or mixed sensorineural and conductive deafness (ranging from mild to profound). |
Other findings: mogrognathia; cleft lip; facial palsy; feeding/ sucking problems as a result of velopharyngeal incompetence; renal abnormalities; omphalocele; tracheoesophageal fistula; rib anomalies; ptosis.
Caused by: altered morphogenesis during 2nd month of gestation.
* Percent of children who have this characteristic as part of the CHARGE Association syndrome.