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. Choanal atresia may be membranous or bony bilateral or unilateral. 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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