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CHARGE Syndrome
Sunday, 20 July 2003
Tuesday, 17 May 2005

What

CHARGE syndrome is a genetic disorder that consists of a specific set of characteristics (coloboma, heart defects, atresia of the choanae, retardation of growth/development, genital/urinary problems, and ear abnormalities), all of which are described in the signs and symptoms section.

Who

CHARGE syndrome occurs in all ethnic groups and equally in both males and females. The disorder occurs in about 1 in 12,000 births.

Signs and Symptoms

Many of the features of CHARGE syndrome are detectable at birth. Not all individuals with CHARGE syndrome will have all of the following signs: Coloboma –the eye structures may not have developed properly. The infant may not be able to see clearly if the shape of the pupil (the “black hole” of the eye that lets light in) is affected. Loss of vision can result if the retina (the back part of the eye that collects light) or the optic nerve (the main nerve that connects the eye to the brain) is affected. Heart defects – the heart may have formed abnormally during fetal development. The heart problems may vary from mild to severe. Atresia of the choanae – nasal passages (called choanae) connect the nose to the throat. If these passages are blocked, it is difficult to breathe through the nose. Retardation of growth/development – children with CHARGE syndrome often have poor growth. The head may not grow well. There can be low levels of growth hormone in the body. They may also have developmental delays or mental retardation. Genital/urinary abnormalities – genitalia of males and females may be smaller than normal. The kidneys may not be properly developed, which can lead to urinary problems. Ear abnormalities – the outer ear may appear wide, short, small, and/or have an abnormal earlobe. Children with CHARGE syndrome may have some degree of hearing loss. Other signs CHARGE syndrome may be a cleft lip, cleft palate, abnormal ribs, hernias, abnormalities of the anus, and/or facial nerve palsies (one side of the face is weaker than the other side causing asymmetry of the face).

Possible Causes

CHARGE syndrome is an autosomal dominant disorder. In some individuals, CHARGE syndrome has been found to be caused by changes in a gene called CHD7. This gene is located on chromosome 8. Deletions (missing pieces) of this area of chromosome 8 can also cause CHARGE syndrome. There are many cases of CHARGE syndrome where the cause is not known and research is ongoing in this field.

Diagnosis

The diagnosis of CHARGE syndrome is based on having at least 3 or more of the characteristics listed in the signs and symptoms section. As with any condition with multiple features, individuals vary with how many and which physical signs they have. Some children may have many symptoms, while others have few, some may be severely affected while others have milder symptoms. Diagnosis can be confirmed by genetic testing of the CHD7 gene on chromosome 8.

Treatment

Often, a team of health care providers will be caring for the child. An ophthalmologist (eye doctor) is essential to evaluate, surgically correct and monitor the child’s eyes and vision. An otolaryngologist (or ENT, ears, nose and throat doctor) is needed to evaluate and surgically correct any abnormalities of the nose and ears to help the child with breathing, hearing and eating. Audiologists are seen to assess hearing and assist in obtaining hearing aids. Significant heart defects will need the care of cardiologists and cardiac surgeons. Endocrinologists may assist with hormone therapy. The genital and urinary problems may need a urologist, endocrinologist, and/or nephrologists (kidney doctor). Developmental concerns can be evaluated by psychologists and teachers in order to get appropriate educational support and specific occupational and physical therapies.

Prognosis

With consistent medical care and treatments, children born with CHARGE syndrome usually can live a normal lifespan. However, with severe defects, especially heart conditions, life expectancy may be reduced.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

CHARGE Syndrome Foundation
CHARGE Syndrome Foundation website is a great source of information with contact information and links to other organizations.

CHARGE Syndrome Canada
A nice website with plenty of information.

Google Search for CHARGE Syndrome

References and Sources

McKusick, V.A. OMIM. CHARGE syndrome. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800 Davenport, S.L., et al. 1986. The spectrum of clinical features in CHARGE syndrome. Clin. Genet. 29:298-310.