Charge association (multiple congenital anomalies syndrome; coloboma, heart disease, atresia, retarded growth, genital hypoplasia, ear malformation association) 232

General: Syndrome consisting of four of six major manifestations of ocular coloboma, heart disease, atresia, retarded growth and development, genital hypoplasia, and ear malformations with or without hearing loss.

Ocular: Blepharoptosis; iris coloboma; optic nerve coloboma; macular hypoplasia; lacrimal canalicular atresia; nasolacrimal duct obstruction.

Clinical: Microcephaly; brachycephaly; malformed ear; bilateral finger contractures; heart disease; genital hypoplasia; heart disease; choanal atresia; retarded growth; hearing loss; facial nerve palsies; mental retardation.

Bowling BS, Chandna A. Superior lacrimal canalicular atresia and nasolacrimal duct obstruction in the CHARGE association, J Pediatr Ophthalmol Strabismus 1994; 31:336-337.

Lin CC, et al. Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. Arch Ophthalmol 1984; 102:1651.

Morgan D, et al. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 1993; 119:49-54.

Warburg M. Ocular coloboma and multiple congenital anomalies. The CHARGE association. Ophthalmic Paediatr Genet 1983; 2:189.