CHARGE is a rare condition that can affect different parts of the body. The most common problems are with the ears, eyes, heart, nasal passages, genitals, and with growth – although the condition, and its severity, does vary from person to person. It is important to emphasise that not all these features are seen in every person with the condition, nor are these problems always severe. It is believed that CHARGE is a genetic condition and very recently a mutation in the gene CHD7 has been found in approximately 50% of some people with CHARGE. Research into this is ongoing, and criteria for diagnosis are constantly under review.
How is a diagnosis made?
Sometimes people are diagnosed as having CHARGE quite quickly. In other cases it may take some time for medical professionals to put the different pieces of information together and make a firm diagnosis. A diagnosis of CHARGE can be made if the individual has three of the major characteristics listed below. Alternatively, if a child has two of the major characteristics, and three of the minor ones then they can also be diagnosed as having CHARGE.
This is an eye deformity where part of the eye has failed to develop properly and is missing. There is a notch-like defect (commonly described as a ‘keyhole’) in any part of the eye. It is present at birth and is non-progressive. Coloboma of the iris (at the front of the eye) may limit the person’s ability to adjust to bright light, as the pupil is often deformed; coloboma of the retina (at the back of the eye) will create a blank area in the person’s visual field. Sometimes the eye may be small (microphthalmia) and in rare cases missing altogether (anophthalmia).
This is a blockage of the passages at the back of the nose. The blockage may be on one or both sides, and may be formed of a membrane of skin or bone. Again, surgery is often necessary immediately after birth to open these passages.
Characteristic ear anomalies
A person’s hearing can be affected. The external ear may be large, small or of an unusual cup shape. The middle ear may have bone malformations or chronic glue ear infection. Also, the inner ear can be affected, resulting in a permanent hearing loss. Hearing loss in people with CHARGE can be mixed and may be a combination of:
– a conductive loss in the middle-ear
– a sensori-neural loss because of damage to the cochlea
– problems processing auditory information because of a missing or underdeveloped auditory nerve.
It is also possible that the semi-circular canals in the ear will be malformed or absent (in the inner ear) which means that a child’s balance will be affected.
Cranial nerve dysfunction (facial palsy, vestibular dysfunction and swallowing difficulties) Cranial nerve problems are thought to be very common in children with CHARGE. In particular, problems with:
– the first cranial nerve which leads to a loss of the sense of smell. Although not an acute medical problem this may affect feeding, and may close off one more sense channel to a child who is already missing out on a lot of other sensory information.
– the seventh cranial nerve which causes facial palsy – a type of paralysis that can leave the face looking flat and expressionless, or drooping on one side.
– the eighth cranial nerve which causes sensori-neural hearing loss, and balance problems
– the ninth and tenth cranial nerves which cause swallowing problems. Children with facial palsy are more likely to have structural differences in the region of the larynx and pharynx in the throat.
This may lead to swallowing problems and aspiration.
Sometimes people are diagnosed as having CHARGE quite quickly. In other cases it may take some time for medical professionals to put the different pieces of information together and make a firm diagnosis
Heart defects may be of various kinds – from life threatening to minor. Sometimes these problems can resolve themselves over time, but often emergency surgery is needed very soon after a child is born.
Cleft lip and palate
It is common for children with CHARGE to have a cleft lip and palate (Orofacial cleft).
This may make it harder to diagnose atresia of the choanae (a blockage of the passages at the back of the nose) if it is present. Surgery for a cleft lip may be required to repair severe clefts. Children with a cleft palate may also have problems with ear infections, feeding, and speech even after surgical corrections.
The incomplete or under-development of the external genitals, is very common in boys. Common problems are undescended testicles and/or small penis. Some girls with CHARGE have small labia minora (inner vaginal lips). Both males and females with CHARGE often experience hormonal problems. Evidence suggests that both sexes will experience difficulties with puberty, boys more so than girls. Failure to adequately replace sex hormones in puberty may lead to brittle bones (osteoporosis) in adult life.
Growth deficiency and developmental delay
This means that the child grows and develops more slowly than expected. There are many factors that can lead to a child growing more slowly – including severe feeding difficulties, breathing problems, chest infections and multiple surgical procedures with repeated and prolonged hospitalisation. Most of the people identified as having CHARGE are short (below the third percentile). It is now recognised that many young people with CHARGE will not go through puberty without the support of hormone treatment. Developmental delay means that a child needs more time to reach milestones such as sitting and standing and developing speech.
Facial asymmetry (the two sides of the face being different) may be present, even in the absence of facial palsy. Other characteristic facial features can include a square face with a broad prominent forehead, ptosis (droopy eyelids), a flat mid-face and small chin.
Upper body hypotonia
Low muscle tone or very floppy muscles in the upper body
Reproduced with permission of Sense 2008