CHARGE syndrome

Abstract

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1-1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75-80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions.

CHARGE syndrome in a fetus with a large paraesophageal hernia presenting prenatally as esophageal atresia

“…Other notable findings were dysphonia and hypocalcemia. A diagnosis of CHARGE syndrome was established based on the presence of four major features of the syndrome (bilateral coloboma, choanal atresia, swallowing difficulties and external ear abnormalities) 1 . CHARGE is a rare congenital anomaly syndrome, with ocular coloboma, congenital heart defects, choanal atresia, retardation of growth and development, genital hypoplasia and ear anomalies associated with deafness.…”

“…Hall, as referenced by Blake and Prasad 1 . Its incidence is 0.1-1.2 per 10 000 deliveries 1 . In most cases, de novo truncating mutations in the gene encoding the chromodomain helicase DNA binding protein 7 (CHD7), located on chromosome 8q12, cause the syndrome 2 .…”

The auditory function of infants with congenital heart diseases

“…Нарушение слуха может быть частью синдромов, ассоциированных с ВПС. Приме-рами таких синдромов являются CHARGE-синдром, синдром Джервелл -Ланге -Нильсена, триада Грегга (врожденная краснуха) [14,17,20].…”

Congenital Optic Disc Coloboma Associated With Right Seventh and Eighth Cranial Nerve Palsy

“…Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness), 8,9 Walker-Warburg 증후군, 16 Goltz 국소 피부 저 형성증(focal dermal hypoplasia), 17 Aicardi 증후군, 18,19 Goldenhar 증후군(oculoauricularverte-bral dysplasia), 20,21 그리고 선상피지모반 증후군(linear sebaceous naevus syndrome) 22 들과 관련이 있다고 한다. 최근에는 Dandy Walker…”