It was recommended that diagnosis of the syndrome be based on the presence of four of these physical features. Since then, physicians have recognized that this definition and rule for diagnosis do not take into account many other physical characteristics of CHARGE syndrome, or the fact that some children with the syndrome did not meet the criteria for diagnosis.
In addition, a gene associated with CHARGE syndrome has been identified on chromosome 8. Although it is now known that CHARGE syndrome is a complex medical syndrome caused by a genetic defect, the name has not changed.
CHARGE syndrome occurs in approximately 1 in 10,000 births worldwide, and usually the infant is the only child in the family with the syndrome.
SymptomsEach of the physical features of CHARGE syndrome ranges from near normal to severe, so each child born with the syndrome may have different physical problems. Some of the most common features or birth defects are:
- Coloboma of the eye (80-90 percent of individuals) - a fissure (crack) usually in the back of the eye. One or both eyes may also be too small (microphthalmos) or missing (anophthalmos).
- Choanal atresia (35-65 percent) - The back of the nasal sinuses on one or both sides is narrowed (stenosis) or doesn't connect with the back of the throat (atresia).
- Cranial nerve abnormality – Missing or decreased sense of smell (90-100 percent), difficulty swallowing (70-90 percent), facial paralysis (palsy) on one or both sides (50-90 percent).
- Heart defect (75 percent) - Different types of heart defects may occur. The most frequent type is a hole in the heart (septal defect).
- Growth retardation (80 percent) - This is first detected when the infant fails to grow normally in the first six months of life. It is due to growth hormone deficiency and/or feeding difficulty. The child’s growth tends to catch up after infancy.
- Mental retardation (70 percent) – IQ may range from normal to severe retardation.
- Underdeveloped genitals (male 80-90 percent, female 15-25 percent)
- Ear abnormalities (95-100 percent) - The ear on the outside is malformed. Problems in the inner ear, such as abnormal semicircular canals or nerve defects, may result in deafness (60-90 percent).
DiagnosisDiagnosis of CHARGE syndrome is based on the physical symptoms the child has. The three most important symptoms are the 3 C’s: Coloboma, Choanal atresia, and abnormal semicircular Canals in the ears.
There are other major symptoms, such as the abnormal appearance of the ears, that are common in CHARGE syndrome but less common in other conditions. Some symptoms, such as a heart defect, may also occur in other syndromes or conditions, and thus may be less helpful in confirming a diagnosis.
An infant suspected of having CHARGE syndrome should be evaluated by a medical geneticist who is familiar with the syndrome. Genetic testing can be done, but it is expensive and only performed by certain laboratories.
TreatmentInfants born with CHARGE syndrome have many medical and physical problems, some of which, such as a heart defect, may be life-threatening. A number of different types of medical and/or surgical treatments may be needed. Physical, occupational, and speech therapy can help a child reach his/her developmental potential. Most children with CHARGE syndrome will need special education because of the developmental and communication delays caused by hearing and vision loss.
- Sanlaville, Damien, & Alain Verloes. "CHARGE syndrome: An update." European Journal of Human Genetics 15(2007): 389-399.
- Verloes, Alain. "Updated diagnostic criteria for CHARGE syndrome: A proposal." American Journal of Medical Genetics 133A(2005): 306-308.
- "About CHARGE." CHARGE Syndrome Foundation. 30 Mar 2007 <http://www.chargesyndrome.org/about-charge.asp>.