The CHARGE association is a polymalformative disease associating colob
oma, heart disease, atresia of choanae, retarded growth and developmen
t, genital hypoplasia and ear anomalies, CHARGE being an acronym based
on these different malformations. The diagnosis requires at least fou
r of these malformations including necessarily coloboma and/or atresia
of choanae. The various clinical aspects, the genetics and the therap
eutics implications are described.