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.