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CHARGE syndrome.

Blake KD, Prasad C - Orphanet J Rare Dis (2006)

Bottom Line: Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation.They also need multidisciplinary follow up.As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pediatrics, IWK Health Centre, Dalhousie University, Canada. kblake@dal.ca

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.

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CHARGE syndrome: unusually shaped ears showing cochlear transplant.
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Figure 1: CHARGE syndrome: unusually shaped ears showing cochlear transplant.

Mentions: Ear abnormalities include a classical finding of unusually shaped ears [6]. Lack of cartilage to the outer ear with deficient 7th nerve innervation to intrinsic ear muscles produces a prominent lop- or cup-shaped ear with a hypoplastic lobule (Figure 1). Hearing loss, conductive and/or nerve deafness, ranges from mild to severe. Ear anomalies were reported in 80–100% of cases in different series [5,7,15,25]. Facial nerve palsies were noted to be a reliable predictor of sensorineural hearing loss. The characteristic abnormalities demonstrated by temporal bone computerized tomography (CT) or magnetic resonance imaging (MRI) scan include hypoplastic incus, decreased numbers of turns to the cochlea (Mondini defect), and, in particular, absent semicircular canals. These distinctive radiological findings are classical for CHARGE syndrome and can aid diagnosis in a suspected case [26]. For this reason, a neonatal CT scan to look at the choanae and temporal bones can be extremely useful.


CHARGE syndrome.

Blake KD, Prasad C - Orphanet J Rare Dis (2006)

CHARGE syndrome: unusually shaped ears showing cochlear transplant.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC1586184&req=5

Figure 1: CHARGE syndrome: unusually shaped ears showing cochlear transplant.
Mentions: Ear abnormalities include a classical finding of unusually shaped ears [6]. Lack of cartilage to the outer ear with deficient 7th nerve innervation to intrinsic ear muscles produces a prominent lop- or cup-shaped ear with a hypoplastic lobule (Figure 1). Hearing loss, conductive and/or nerve deafness, ranges from mild to severe. Ear anomalies were reported in 80–100% of cases in different series [5,7,15,25]. Facial nerve palsies were noted to be a reliable predictor of sensorineural hearing loss. The characteristic abnormalities demonstrated by temporal bone computerized tomography (CT) or magnetic resonance imaging (MRI) scan include hypoplastic incus, decreased numbers of turns to the cochlea (Mondini defect), and, in particular, absent semicircular canals. These distinctive radiological findings are classical for CHARGE syndrome and can aid diagnosis in a suspected case [26]. For this reason, a neonatal CT scan to look at the choanae and temporal bones can be extremely useful.

Bottom Line: Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation.They also need multidisciplinary follow up.As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pediatrics, IWK Health Centre, Dalhousie University, Canada. kblake@dal.ca

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.

Show MeSH
Related in: MedlinePlus