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CHARGE Association


CHARGE Syndrome Foundation, Inc.
2004 Parkade Boulevard
Columbia, MO 65202-3121
Phone: (800) 442-7604 or (573) 499-4694
E-mail: marion@chargesyndrome.org
Meg Hefner (genetic counselor):  meg@chargesyndrome.org
Web site:  http://www.chargesyndrome.org

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CHARGE Association/CHARGE Syndrome

Related Terms:

CHARGE Syndrome - Choanal Atresia, Posterior Coloboma, Heart defect, choanal Atresia, Retardation, Genital and Ear anomalies.

CHARGE Association refers to children with a specific set of birth defects. "CHARGE" originally came from the first letter of some of the most common features seen in these children:

C = coloboma
H = heart defects
A = atresia of the choanae
R = retardation of growth and development
G = genital and urinary abnormalities
E = ear abnormalities and/or hearing loss

The diagnosis of CHARGE is based on finding several of these and possibly other features in a child. The diagnosis should be made by a medical geneticist who has ruled out other disorders with overlapping findings.

FEATURES

C = Coloboma

A coloboma is a cleft or failure to close of the eyeball. This can result in a keyhole©shaped pupil and/or abnormalities in the retina or optic nerve. Colobomas of the retina or optic nerve may result in significant vision loss, especially visual field defects in the upper half of the visual field. Visual acuity may also be affected, resulting in nearsightedness or farsightedness. Surgery cannot correct ocular colobomas, but glasses often help with visual acuity. Children with CHARGE are often very sensitive to light. Many are more comfortable with sunglasses, even indoors.

C = Cranial nerves

About 40% of children with CHARGE have facial palsy (cranial nerve VII), and at least 30% have swallowing problems (cranial nerve IX/X). Children with facial palsy may be more likely to have sensorineural hearing loss (cranial nerve VIII). Swallowing problems often last for years, but typically resolve by age 7 or 8 years.

H = Heart

About 80% of children with CHARGE are born with a heart defect. Many are minor defects, but many require treatment or surgery. Some of the complex heart defects seen in CHARGE (e.g. tetralogy of Fallot) can be lifeªthreatening.

A = Atresia of the choanae

The choanae are the passages from the back of the nose to the throat which make it possible to breathe through the nose. In children with CHARGE, these passages may be blocked (atresia) or narrowed (stenosis). Surgery can often correct these defects. Multiple surgeries are often required.

R = Retardation of growth and development

Although most children with CHARGE are average size at birth, many will become small due to nutrition problems, heart problems, or growth hormone deficiency. Some catch up after the severe medical problems and feeding problems have resolved.

Most children with CHARGE will be developmentally delayed. Often, this is primarily due to sensory deficits (vision loss and/or hearing loss) and frequent hospitalizations as infants. Some children with CHARGE will be mentally retarded, with or without brain abnormalities.

G = Genital and urinary abnormalities

Many boys with CHARGE have a small penis and/or undescended testes. Girls may have small labia. Boys or girls with CHARGE may require hormone therapy to achieve puberty. Boys and girls may have kidney or urinary tract abnormalities, especially reflux.

E = Ear abnormalities and hearing loss

Most children with CHARGE have unusual external ears, including short, wide ears with little or no earlobe, often with a "snipped©off" appearance to the helix (outer fold of the ear). The ears may be soft due to floppy cartilage. Keeping a hearing aid in place is often difficult.

Hearing loss (conductive and/or nerve) is present in 80©85% of children with CHARGE, ranging from mild hearing loss to profound deafness. The hearing loss can be difficult to evaluate due to frequent ear infections, presence of other medical conditions, and general difficulty of testing. Many children have additional conductive losses due to frequent ear infections. Many children also have difficulty with balance.

Other

Children with CHARGE may have other birth defects, including cleft lip and palate, tracheo-esophageal fistula or atresia, or poor immune response.

Many have weak upper body strength. Some are difficult to sedate for testing. There may be some behavior problems associated with CHARGE, but not enough information is available at this time.

CAUSES

CHARGE Association is usually sporadic with no other affected individuals in the family. There are rare reports of multiple affected individuals in a family. Recurrence risk is low, probably 1-2%. The risk of an affected individual having an affected child may be much higher.

AFFECTED POPULATION

The incidence of CHARGE is about 1/10,000-1/12,000 births. It is probably very underdiagnosed. The frequency is the same in males and females. CHARGE has been seen in all races.

RELATED DISORDERS

Other conditions with overlapping features include VATER association, velocardiofacial (VCF) syndrome, and prenatal retinoic acid (Accutane) exposure.

THERAPIES AND OUTCOME

Although these children have many problems, they can survive and become healthy, happy citizens. Many of the structural abnormalities (choanal atresia, heart defects, cleft lip, etc.) can be surgically corrected. In any child in whom CHARGE is suspected, complete cardiac (heart), ophthalmological (eye), and audiological (hearing) evaluations should be performed, as well as abdominal ultrasound (kidney), and chromosome evaluation.

Appropriate therapies and educational intervention must take into account any hearing and vision loss which is present. The intelligence of children with CHARGE is often underestimated due to the combined hearing and vision problems. Management should be by a multidisciplinary team and coordinated by a single person, if possible.


Resources

From the Foundation, newsletter, CHARGE Accounts, CHARGE Syndrome: A Booklet for Families, Medical bibliography, CHARGE Syndrome brochure, Back issues of CHARGE Accounts, Questionnaire for families (collects information for family support groups, data for research, no charge), Biennial conferences for families and professionals Information on regional support groups, parent to parent matching Conference pack, tapes


References:

The spectrum of clinical features in CHARGE syndrome. SLH Davenport, et al.; Clin Genet 29:298-310 (1986).

CHARGE association: Clinical manifestations and developmental outcome. AS Harvey, et al.; Am J Med Genet 39:48-55 (1991).

The CHARGE Association. How well can they do? E Goldson, et al.; Am J Dis Child 140:918©921 (1986). Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. KD Blake, et al.; Arch Dis Child 65:217-223 (1990).

Clinical manifestations of CHARGE association. BM Edwards, LA VanRiper, PR Kileny; Int J Ped Otorhinolaryngology 33:23-42 (1995)


 


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Debra Collins, M.S. CGC, Genetic Counselor, dcollins@kumc.edu


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