CHARGE Syndrome

What is CHARGE syndrome?

CHARGE syndrome is a rare disorder that develops during the early fetal development stages in the patient’s life. The disorder affects multiple organ systems, and the acronym CHARGE describes the characteristic features that occur. (C): coloboma and cranial nerve defects (H): heart defects (A): atresia of the choanae (blocked nasal breathing passages) (R): retardation of growth and development (G): genital underdevelopment (E): ear abnormalities and sensorineural hearing loss

What causes CHARGE syndrome?

CHARGE syndrome is caused by a new mutation in the CD7 gene or genomic alterations in the part of chromosome 8 where this gene is located. This gene mutation is usually spontaneous, as it is very rare for CHARGE syndrome to run in families.

What are the symptoms of CHARGE syndrome?

The symptoms of CHARGE syndrome vary greatly from one patient to another, but since the disorder affects multiple organ systems, the problems of CHARGE syndrome are apparent at birth. In addition to the features of CHARGE syndrome described by the acronym (see above), the following abnormal physical features are characteristic of children with the disorder:

• Asymmetric facial nerve palsy
• Cleft lip or palate
• Abnormal wind pipe or food pipe

Other signs and symptoms, such as poor growth, upper body weakness, kidney abnormalities, sleep apnea, and congenital heart defects, are also common.

How is CHARGE syndrome diagnosed?

There are four major diagnostic criteria for CHARGE syndrome, denoted as “The 4 C’s:”

1. Coloboma (cleft or failure to close the eyeball during fetal development)
2. Cranial nerve abnormalities
3. Choanal atresia (the passages from the back of the nose to the throat are blocked or narrowed)
4. Typical CHARGE ear that is short and wide with little or no earlobe

An observation of other features that are less specific to CHARGE syndrome, such as heart defects, genital abnormalities, and a typical CHARGE face and hand, can also help make a diagnosis. However, since other rare conditions share some of the same signs and symptoms with CHARGE syndrome, molecular genetic testing should be done to confirm a diagnosis.

What are the available treatments for CHARGE syndrome?

Even though there are many problems associated with CHARGE syndrome, with proper symptomatic and supportive treatment, children can survive and lead happy lives. Many of the structural abnormalities with CHARGE syndrome (choanal atresia, heart defects, cleft lip) can be corrected with surgery. Sleep apnea can be treated with conventional medications, as can kidney problems, and learning, behavioral, and language problems can be improved with therapy.

Where can I find more information on CHARGE syndrome?

• National Organization for Rare Disorders (NORD)
• CHARGE Syndrome Foundation
• U.S. National Library of Medicine