CHARGE Syndrome, which is also commonly known as the CHARGE Association, is a rare genetic disorder that involves different medical and physical challenges. It is caused by a mutation in one gene, the CHD7 that is on chromosome #8, and this gene is known to be a regulator turning other genes on and off. Charge Syndrome occurs in about 1 out of every 9-10,000 births and even though it is genetic there hasn’t been a link found to the incidence of CHARGE and family history. For parents with one child with CHARGE it is said that the incidence of having another child with the syndrome is 1-2% but for the risk of children with CHARGE to have a child with it is said to be about a 50% chance, according to the CHARGE Syndrome Foundation’s Website. Since CHARGE is actually an acronym for the six characteristics commonly seen in those with the syndrome, in order for someone to be diagnosed as having CHARGE Association or Syndrome, they must show at least four of the following six characteristics.
C - Stands for coloboma, which is a congenital condition that results from teardrop or abnormal shape of the pupil as well as other eye abnormalities that may leave an individual with difficulty seeing depth perception, visual acuity and even affect their eye's sensitivity to light.
H - Stands for heart defects, and these can range in individuals as minor all the way to life threatening conditions
A - Stands for atresia, or known as complications to the respiratory system
R - Stands for retarded physical growth (I think they could update the acronym or use a better word instead of the R one) but it refers to the idea that some may have stunted growth in limbs or torso, and also may even have intellectual disabilities
G - Stands for genital abnormalities, and while these are typically more common in males, the children with CHARGE often have incomplete or underdeveloped genitals
E - Stands for ear defects and deformities that either can be in the middle, outer or inner ear, and these often cause hearing loss either in the mild form or even profound forms as well.
I personally have never heard of such a condition as CHARGE syndrome, and I also don't know anyone personally with the syndrome but the book also included that children who have the syndrome, or have at least four of the above characteristics typically show high levels of anxiety or even have compulsive behaviors. Since the book didn't include a large section of information about CHARGE, I was curious to learn more so I visited their website, http://www.chargesyndrome.org/about-charge.asp to learn more information. I found that the most common characteristics shared among those with CHARGE syndrome are vision loss due to coloboma (seen in 80-90% of individuals), hearing loss and balance problems due to inner ear deformities (90% of individuals), cranial nerve abnormalities that leave individuals with lack or decreased sense of smell (90%-100% of individuals), and also swallowing and aspiration difficulties due to the cranial nerve abnormalities (70-90% of individuals). It also listed that 90% of individuals with CHARGE syndrome also have low muscle tone, and that it’s very common that due to this low muscle tone they also have scoliosis and a short neck. The website also includes reference points for parents and families as well as conferences, seminars, support groups, and other helpful websites. Below are some pictures of the characteristics that children with CHARGE Syndrome exhibit.
C - Stands for coloboma, which is a congenital condition that results from teardrop or abnormal shape of the pupil as well as other eye abnormalities that may leave an individual with difficulty seeing depth perception, visual acuity and even affect their eye's sensitivity to light.
H - Stands for heart defects, and these can range in individuals as minor all the way to life threatening conditions
A - Stands for atresia, or known as complications to the respiratory system
R - Stands for retarded physical growth (I think they could update the acronym or use a better word instead of the R one) but it refers to the idea that some may have stunted growth in limbs or torso, and also may even have intellectual disabilities
G - Stands for genital abnormalities, and while these are typically more common in males, the children with CHARGE often have incomplete or underdeveloped genitals
E - Stands for ear defects and deformities that either can be in the middle, outer or inner ear, and these often cause hearing loss either in the mild form or even profound forms as well.
I personally have never heard of such a condition as CHARGE syndrome, and I also don't know anyone personally with the syndrome but the book also included that children who have the syndrome, or have at least four of the above characteristics typically show high levels of anxiety or even have compulsive behaviors. Since the book didn't include a large section of information about CHARGE, I was curious to learn more so I visited their website, http://www.chargesyndrome.org/about-charge.asp to learn more information. I found that the most common characteristics shared among those with CHARGE syndrome are vision loss due to coloboma (seen in 80-90% of individuals), hearing loss and balance problems due to inner ear deformities (90% of individuals), cranial nerve abnormalities that leave individuals with lack or decreased sense of smell (90%-100% of individuals), and also swallowing and aspiration difficulties due to the cranial nerve abnormalities (70-90% of individuals). It also listed that 90% of individuals with CHARGE syndrome also have low muscle tone, and that it’s very common that due to this low muscle tone they also have scoliosis and a short neck. The website also includes reference points for parents and families as well as conferences, seminars, support groups, and other helpful websites. Below are some pictures of the characteristics that children with CHARGE Syndrome exhibit.
Top left is a picture of coloboma, the deformity of the eye and iris, the top right is a picture of the ear defects and deformities commonly seen, the bottom left shows the short neck and sloped shoulders commonly seen, as well as the G-tube which is used for feeding for those with swallowing problems, and the bottom right shows a face of a child with CHARGE Syndrome |