At birth, children with CHARGE syndrome usually have normal weights and lengths. Growth and developmental retardation become more obvious as the child matures. Chronic middle ear infections and deafness can be associated complications of choanal atresia. Polyhydramnios in pregnancy is seen commonly in individuals with bilateral posterior choanal atresia, and may also be present without BPCA, probably due to an insufficient swallowing mechanism. However, the Canadian epidemiological study data suggests that an individual from this population with a more severe clinical presentation of CHARGE features generally survive. Bilateral posterior choanal atresia (BPCA) was shown to be associated with increased neonatal mortality, especially if associated with major cardiac malformations +\- tracheoesophageal atresia. Choanal atresia may be membranous or bony bilateral or unilateral. It represents a primary feature with a high index of suspicion for CHARGE syndrome and it should focus attention on other organ systems such as the eye and heart. Atresia choanaeĬhoanal atresia is a narrowing or a blockage of the passages between the nasal cavity and the naso-pharynx. Vascular rings and more complex heart defects need to be anticipated. Other frequent anomalies are patent ductus arteriosus, double outlet right ventricle with atrioventricular canal, ventricular septal defect and atrial septal defect with or without cleft mitral valve. The most common major heart defect is tetralogy of Fallot (33%). Heart defectĬongenital heart defects occur in 75–80% of patients with CHARGE syndrome. External inspection is not sufficient and testing for functional vision is important but challenging especially in CHARGE individuals with extensive bilateral chorioretinal coloboma involving the optic nerve. Eye malformations have been reported in as many as 80% of patients with CHARGE syndrome, with retinal involvement being the most common. Retinal coloboma is more prevalent than iris coloboma and can affect the optic nerve. The eye abnormalities range from iris coloboma without visual impairment to microphthalmos and anophthalmos. This feature may be unilateral or bilateral and may affect only the iris or extend to involve the retina, or only the retina. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions.ĬHARGE syndrome includes the following features: Coloboma 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. They also need multidisciplinary follow up. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. A behavioral phenotype for CHARGE syndrome is emerging. Multiple cranial nerve dysfunctions are common. 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). Under-development of the external genitalia is a common finding in males but it is less apparent in females. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75–80% of patients. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. 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. 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).
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