CHARGE syndrome

What happens in this disease?

Most people have a change in the CHD7 gene. In the womb, this gene controls the switching on and off of other genes. This is why the eyes, nose, ears, heart and nerves develop differently. The name CHARGE comes from the first letters of the common signs in English.

Which symptoms can occur?

The pattern of signs varies from person to person. The following may be seen:

• A gap in the eye, called a coloboma (in most)
• Narrowing or blockage at the back of the nose, difficulty breathing
• Mild to severe hearing loss and differently shaped ears
• Difficulty swallowing, facial weakness (palsy), reduced sense of smell
• Heart problems
• Slow growth after infancy and developmental delay
• Delayed puberty, a small penis and undescended testes in boys
• Cleft lip or cleft palate

How is it diagnosed?

The doctor considers the diagnosis based on the examination and the typical signs. A genetic test of the CHD7 gene confirms the diagnosis. If the test is negative, a chromosomal microarray or broader genetic tests may be done.

Treatment and care

Many specialists work together; a team approach is very important. Blockage of the nose, heart problems and cleft lip are often corrected with surgery. The gap in the eye cannot be corrected with surgery, but glasses can help. For hearing, a hearing aid or a cochlear implant may be considered. Long-term therapy may be needed for feeding and speech. Education suited to sight and hearing loss is important. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

A CHD7 change is passed on through dominant inheritance. This means one copy is enough. In most children the change is new and no one else in the family is affected. Rarely, it is passed on from an affected parent. Genetic counselling is recommended.