Overview:

CHARGE syndrome is a complex genetic condition that occurs in approximately “one in every 9-10,000 births worldwide” (The). A baby born with CHARGE syndrome is often the first and only member of the family to have the gene mutation; however, there are some rare cases of a sibling being born with condition as well. When the baby is born he or she will exhibit several physical anomalies as well as many medical problems such as heart defects and problems breathing and swallowing. Due to the inconsistency with the gene mutation often used to diagnosis CHARGE (it only occurs in about 2/3 of cases) a clinical diagnosis has to be made. Some of the major features doctors look for are “ocular coloboma or microphthalmia, choanal atresia or stenosis, cranial nerve abnormalities and characteristic auditory and/or aurical anomalies” (Tegay). Because of the many medical complications an infant born with CHARGE syndrome has he or she may remain in the hospital for several months to undergo many surgeries and procedures.

Children with CHARGE syndrome face developmental and communication delays from all the time spent in and out of the hospital and the common vision and hearing loss. This does not mean the child will not catch up though. Most children with CHARGE surpass expectations and with the help of Early Intervention programs can develop relatively normal cognitive skills, and with educational/vocational programs they can be happy and healthy adults.

Quick Facts:

• Each case is unique and the variations of mental and physical abilities are broad.
• CHARGE syndrome does not discriminate. It can affect anyone regardless of race, religion, sex, and socio-economic status.
• In 2004 a mutation on the gene CHD7 was found.
o The gene test is expensive and not always accurate because the mutation is found in only roughly 60% of cases.
• CHARGE occurs in about 1 in every 10,000 births.
• The syndrome is not inherited by either parent. Each CHARGE individual is usually the first and only in their family to have the syndrome although there are exceptions.
• Clinical diagnosis made generally by a medical geneticist.
• CHARGE is an acronym that was created in 1981 by doctors to use as a guideline to identify the then new pattern of physical birth defects and medical complications occurring in newborns
o Coloboma, Heart defects, chonanae Atresia, Retardation of growth/development, Genital/urinary defects, and Ear anomalies
o This is no longer used as the primary diagnosing guide.

Bibliography:

Kniffin, O’Neill, et al. “Charge Syndrome.” Online Mendelian Inheritance in Man. 2009. John
Hopkins University. NCBI. 15 July 2009
.
Moss, Kate. "CHARGE Syndrome." SEE/HEAR 10 Nov. 1996. Texas School for the
Blind and Visually Impaired. 15 July 2009
.
Tegay, David H. and Jamie C. Yedowitz. “CHARGE Syndrome.” emedicine. 9 December 2008.
15 July 2009 .
The CHARGE Syndrome Foundation. 2009. 14 July 2009 .