What Is CHARGE Syndrome?

CHARGE syndrome is a rare genetic disorder that begins during a child’s fetal development. The features of this syndrome vary from child to child, but are well-established.

Medical researchers have not yet isolated all the causes for CHARGE syndrome, though they have made good progress. Because many of the symptoms of CHARGE syndrome often manifest at or before birth, early detection is important.

CHARGE is an abbreviation for several of its common features:

  • Coloboma
  • Heart defects
  • Choanae atresia
  • Retarded growth and development
  • Genital abnormalities
  • Ear abnormalities

Babies born with CHARGE syndrome often have birth defects that can be life-threatening. They spend many months in the hospital and undergo many surgeries and other treatments. Malformations that occur as a result of this condition often result in difficulty breathing and swallowing, which can be especially challenging for newborns. Many have a loss of hearing and vision that can delay their development.

The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. Affected individuals usually have at least one major characteristic and multiple minor characteristics.

What Causes CHARGE Syndrome?

Researchers are still not sure about the cause for all cases of CHARGE syndrome. However, clinical research has established that at least two-thirds of cases are caused by mutations in the child’s CHD7 gene.

Some children who have been diagnosed with CHARGE syndrome do not have an identified mutation in their CHD7 gene. Research is still being conducted to find if changes in other genes can also lead to the syndrome and for other genetic changes affecting the CHD7 gene that aren’t yet identified.

What Are the Symptoms of CHARGE Syndrome?

Each of the criteria that a doctor will use to determine a CHARGE diagnosis is split into two categories: major and minor symptoms. A diagnosis consists of the presence of at least one major symptom and multiple minor symptoms.

Major Diagnostic Criteria

Coloboma is a malformation of a child’s eyeball during their fetal development. Depending on its severity, it can affect the shape of the pupil or the size of the eyeball itself.

Cranial nerve abnormalities are another common feature of CHARGE syndrome are developmental abnormalities within the child’s ears which can lead to both hearing loss and severe balance problems. Other cranial nerves often affected control sucking, swallowing and smelling, which also lead to problems with their respective functioning.

The choanae are the passages at the back of the throat that make breathing through your nose possible. These can become blocked due to developmental abnormalities brought on by CHARGE syndrome.

Just as the inner workings of the ear are often affected by CHARGE syndrome, the characteristics of the ear of a child with the disorder are common enough to indicate its presence.

Minor Diagnostic Criteria

There are a number of features that can also be used to indicate a diagnosis, These include heart defects, genital abnormalities, kidney abnormalities, a cleft lip or palate, poor growth and reduced muscle strength (hypotonia).

What Are the Treatments for CHARGE Syndrome?

Children diagnosed with CHARGE syndrome undergo treatments appropriate to the way the disorder manifests. Babies born with CHARGE syndrome are often cared for in a specialist center staffed by pediatric otolaryngologists and other medical specialists.

Doctors perform surgery to correct life-threatening abnormalities as soon as possible after birth. Babies may also receive hormone therapy to correct genital abnormalities. Because this syndrome can affect a number of different systems, your child may also need supporting medical services as varied as cardiologists, ophthalmologists, speech therapists and neurologists.