CHARGE syndrome is a condition where a number of symptoms are seen together – the name CHARGE is made from the initials of the main symptoms of the condition. CHARGE syndrome is a rare condition affecting around one in every 10,000 births. It can also be called CHARGE association, because of the group of symptoms associated with each other, but this term tends not to be used these days.
What causes CHARGE syndrome?
CHARGE syndrome can be caused by a mutation (change) in a particular gene, usually the CHD7 gene. Around half of all children with CHARGE syndrome have this gene mutation. Although CHARGE is a genetic condition, it is not usually passed on from parent to child – the gene mutation happens by chance.
What are the signs and symptoms of CHARGE syndrome?
The condition is called CHARGE as these are the initials of the main symptoms.
Coloboma of the eye – this is an eye problem where part of the eye did not develop properly in the womb. It looks a little like a keyhole and does not get any worse as the child grows older.
Heart defects – the heart defects affecting children with CHARGE syndrome vary in severity, but can include ventricular septal defects and tetralogy of Fallot.
Atresia of the choanae – this is another condition present at birth where one or both of the openings at the back of the nose are blocked by bone or tissue. Choanal atresia causes breathing difficulties, as babies do not breathe properly through their mouth for the first few months.
Retardation of growth and/or development – children with CHARGE syndrome may not grow and develop at the same rate as other children their age. Often, they do not start puberty without additional hormone treatment.
Genital and/or urinary abnormalities – boys with CHARGE syndrome commonly have a small penis and/or undescended testicles. The inner lips of the vagina in girls with CHARGE syndrome may be very small.
Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set ears.
These symptoms are the most commonly seen in children with CHARGE syndrome but there can be other problems as well. A large proportion of children with CHARGE syndrome have some degree of learning disability but this can be variable. The facial features of children with CHARGE syndrome can be quite similar even though they are not related and include a small lower jaw and cleft lip and/or palate.
How is CHARGE syndrome diagnosed?
CHARGE syndrome is diagnosed by carrying out a full physical examination and noting that several of the main symptoms listed above are present. Other conditions can look similar to CHARGE syndrome so further diagnostic tests may be needed to narrow down the diagnosis. As CHARGE syndrome is quite rare, some children may not be diagnosed until early childhood when hearing problems and/or slow development become obvious.
If a person has one child with CHARGE syndrome caused by the specific gene mutation, it is possible to offer prenatal (before birth) diagnosis. Unfortunately, if they do not have the gene mutation, prenatal diagnosis is not usually possible.
The chance of having another child with CHARGE syndrome is thought to be between one and two per cent but further research is needed to confirm this.
How is CHARGE syndrome treated?
The initial treatment needed is to correct the choanal atresia and heart defect. Choanal atresia is repaired in an operation under general anaesthetic, which lasts about an hour. The surgeon will make a hole through the bone or tissue blocking the nasal passages.
Heart defects will almost always need correction in an operation under general anaesthetic. When the operation takes place and what it involves depends on the heart defect present. Children with a cleft lip and/or palate will also need an operation in early childhood to enable feeding and speech development.
Regular developmental screening will be suggested to monitor growth and development so that help to catch up with milestones can be offered as early as possible. As many children with CHARGE syndrome have learning disabilities and/or hearing impairment, they will need some support at school.
What happens next?
Children with CHARGE syndrome can expect to have a normal lifespan once the choanal atresia and heart defects have been corrected. They will need some help at school but most children do well in mainstream schooling.