What is CHARGE Syndrome?
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), retarded growth and development, genital abnormality, and ear abnormality. The pattern of malformations varies among individuals with this disorder, and infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. The major characteristics of CHARGE syndrome are more specific to this disorder than are the minor characteristics. Many individuals with CHARGE syndrome have a hole in one of the structures of the eye (coloboma), which forms during early development. A coloboma may be present in one or both eyes and can affect a person’s vision, depending on its size and location. Some people also have small eyes (microphthalmia). One or both nasal passages may be narrowed (choanal stenosis) or completely blocked (choanal atresia). Individ
CHARGE syndrome is a genetic condition which appears in around one in every 10,000 infants. This extremely rare condition is associated with abnormalities on the eighth chromosome, and it can manifest in a variety of ways. Many people with CHARGE syndrome live very active, fulfilling lives, and independence is an option for many patients, if they are given the proper supportive care as they are growing up so that they can learn to navigate in society. The term “CHARGE” is an acronym which includes the key physical abnormalities linked with this syndrome: coloboma, heart defects, atresia choanae, retardation of development, genital abnormalities, and ear abnormalities. The condition was first described as CHARGE association in 1979, and later changed to CHARGE syndrome when genetic research revealed the chromosomal abnormalities responsible for the condition. In order to be diagnosed with CHARGE, an infant must have at least four of the six common abnormalities. Coloboma, a condition in
• CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects. • CHARGE Syndrome: An association of posterior choanal atresia with variable multiple abnormalities which include delayed mental and somatic development, ocular coloboma, ear abnormalities, deafness (usually associated with recurrent otitis, rather than ear anomalies), hypogenitalism, and heart defects. Many children have feeding, swallowing, and breathing difficulties and facial paralysis which are caused by multiple cranial nerve dysfunction. The syndrome occurs twice as often in girls as in boys and usually affects the right side of the body. Source – Diseases Database CHARGE Syndrome is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that CHARGE Syndrome, or a subtype of CHARGE Syndrome, affects less than 200,000 people in the US population. Source – National Institutes of He
References: Moss, K. (No date). CHARGE Syndrome [Online]. Available: http://www.tsbvi.edu/Outreach/seehear/issue11-96/CHARGE%20Syndrome.htm [1998, June 30]. Norbury, M. and Hefner, M. (No date), CHARGE Syndrome [Online]. Available: http://www.kumc.edu/GEC/support/charge.html [1998, June 24]. CHARGE Syndrome is a specific set of birth defects commonly found together. The word CHARGE is an acronym for each of the defects that may be found in people diagnosed with CHARGE. Coloboma “a cleft or failure to close the eyeball” • May result in loss of vision and heightened sensitivity to bright light. • Children may need to use sunglasses, even inside. Heart defects • 8 out of 10 children born with CHARGE Syndrome have some form of heart defect. (Defects may be minor and correctable; however, some of them are so severe they are fatal.) Atresia of the choanae – blockage of the back of the nasal passage • blockages cause inability to breathe (especially critical at birth) Retardation: PHYSICAL DE
