Craniofacial anomalies – CHARGE Association
The term CHARGE is an acronym. The letters of CHARGE stand for the primary symptoms of the CHARGE Association.
C for coloboma
H for heart defect
A for atresia of the choanae
R for retardation of growth and development
G for genital and urinary abnormalities
E for ear abnormalities and/or hearing loss
What does CHARGE mean for my child?
Coloboma is a notch in the iris which gives it a keyhole shape. The Coloboma can just affect the iris (which may make seeing bright lights uncomfortable due to the enlarged pupil) or could also involve the retina and /or the optic nerve of the eye. If the retina or optic nerve is involved, the field of vision may be affected, giving the person a loss of part of the visual field or a reduction in the acuity of vision. Surgery is not able to correct the coloboma but glasses or contact lenses can help with any loss of acuity. If a coloboma is going to occur it will be present at birth.
The heart defects associated with CHARGE are ASD and VSD. These are holes between the chambers of the heart. ASD stands for atrial septal defect and is a hole between the right and left atrium of the heart. VSD stands for ventricular septal defect and is a hole between the right and left ventricles of the heart. The holes may close on their own if they are small. Others require surgery.
The choanae are passages that lead from the back of the nose to the throat. These passages make it possible to breathe through the nose. Choanal atresia means that the passage from the back of the nose to the throat is not formed correctly, which results in an inability to breathe through the nose. This can be serious if not corrected early because young babies don’t breathe through their mouth. If the choanae are not blocked but the passages are narrower than normal this is called a choanae stenosis (stenosis means narrowing). Whether choanae stenosis requires surgery depends on how narrow the passages are.
Retardation of growth and or development
Retardation of growth and or development means that children with CHARGE may not grow as well as other children. They may be shorter than other members of the family. They may also be delayed in their development and have some learning problems. As with all children, it is not possible to predict which, if any, learning problems will become evident. Watch your child and arrange extra help if you notice a problem. Intelligence can be underestimated, particularly in children who have hearing or visual problems. Identifying, then helping your child cope with any visual or hearing difficulties, will greatly assist the learning process.
Genital and urinary abnormalities
Both males and females are at risk of having a difference in the way the kidneys and the urinary tract are formed. Boys may have a smaller than normal penis and testicles. One of the more common problems is reflux. This is when urine flows back against the normal direction, which is away from the kidney. It can usually be corrected with surgery. If it suspected that a child has CHARGE Association, the kidneys will be examined to look for reflux. In addition, both males and females may require hormone therapy to go through puberty.
The outer ear may be smaller than normal or not fully developed. Surgery can often help with this. If plastic surgery is going to be performed on the ear, it is often done between the ages of 5 and 10 years. There may also be some degree of hearing loss. Hearing loss may be either sensorineural or mixed conductive and sensorineural. In conductive hearing loss sound is not conducted from the external ear to the inner ear, while in sensorineural hearing loss the hearing problem is in the inner ear, auditory nerve or auditory centers of the brain. Surgery can often improve hearing when the loss is conductive, but it is frequently unable to improve hearing if the hearing loss is sensorineural. Hearing aids can help hearing in both types of hearing loss. However, if the loss is in the profound range, hearing aids may only be able to help in hearing general noise and not with distinguishing individual words.
Can there be other problems associated with CHARGE Association?
Several nerves are involved in the movement of the facial muscles. In some children with CHARGE Association, one or more of the nerves may not function correctly. The problems caused depends upon the nerve or nerves involved. A child may not be able to show facial expression or may have swallowing problems. If swallowing problems are going to occur they will usually be noticeable at birth. There are many causes of swallowing problems, so it is important to be evaluated to determine what can be done to help. The swallowing problems often improve as the child gets older. Children who have facial palsy (trouble showing facial expressions) also have an increased risk of being hearing impaired.
What are the chances of having another child with CHARGE Association?
CHARGE is almost always a sporadic occurrence. This means that there is no family history of CHARGE and there is a very low chance that any one else in the family will have the same problems. The recurrence risk (chance of another child having CHARGE) is 1-2%, which also means there is a 98-99% chance that it will not happen again. However, the person with CHARGE may have a higher risk of having affected children.
What causes CHARGE?
Currently it is not known what causes CHARGE, but the problems seen in a person with CHARGE would indicate that a problem in development occurred between 35 to 45 days after conception.
- CHARGE Syndrome Foundation, Inc.
- National Association for Parents of the Visually Impaired.
This support group, as the name suggests, is not just for those who are affected or have a family member affected with CHARGE.
Tel: (800) 562-6265
Jones K.L., Smith’s Recognizable Patterns of Human Malformation. 5th Edition. W.B. Soliders Company A Division of Harcourt Brace and Company, 1997.
Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 214800: 2000: World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/