CS is a genetic condition. It is caused by a change or mutation in at least one gene. Most of the time, this is present in the child but not in the parents. It is very rare to have a family history of CS. It is not common for families to have more than one child with CS.  

The CHD7 gene is the most common gene affected in children with CS. About two-thirds of children showing an abnormality (or mutation) of the CHD7 gene. This gene test is helpful to find out if a child has CS. There are other tests that are also done if this test does not show the gene mutation.  

Due to the wide range of findings in children with CS, the diagnosis can be hard to make. The below symptom lists were defined to improve the ability to detect and diagnose CS. 

Symptoms common to CHARGE syndrome include:

• Eyes: A coloboma (missing piece of the eye) in some parts of the eye (including the iris or colored part of the eye), small eyes or missing eye can impact vision

• Throat: Passages that go from the back of the nose to the throat can be narrow (stenosis) or blocked (atresia). This can cause problems swallowing and breathing, and choking.

• Nose: Decreased or no sense of smell

• Face: Paralysis or weakness on one or both sides

• Ears: Malformations leading to hearing loss and balance problems 

Symptoms of CHARGE that are harder to diagnose or less specific to CHARGE:

• Heart defects

• Cleft lip and/or cleft palate

• Esophageal atresia and tracheoesophageal fistula (TEF), H-shaped TEF

• Kidney abnormalities – Underdeveloped kidneys or even an absent kidney. Urinary reflux can also be found on testing.

• Underdeveloped genitals – Undescended testicles and small penis for males. Underdeveloped labia and uterus for females.

• Growth deficiency – Short size due to low growth hormone levels is common

• Facial features:

• Square face
• Broad forehead
• Arched eyebrows
• Large eyes
• Occasional droopy eyelids
• Prominent bridge of nose
• Thick nostrils
• Small mouth
• Occasional small chin
• Asymmetrical (uneven) face

• Palm crease – A hockey-shaped or L-shaped crease in the palm is often seen

• Behavior: Younger people are very persistent. Older people tend toward obsessive compulsive behavior.

Even with the above symptom lists, it can be hard to make a definitive diagnosis of CS. Genetic tests for CHD7 mutations are not always available.Also not all patients with CS will have CHD7 abnormalities. 

Best practice for CS includes a coordinated team evaluation to assess a wide range of medical and developmental conditions. This helps to make a correct diagnosis and a management plan. A medical geneticist familiar with CS should be part of this process.

CS is complex and effects many body systems. It is helpful to involve multiple experts who can coordinate care. Treatment will address each child’s needs and focus on:

• The severity of problems

• The age of the child

• The nature of the medical problems 

Early Treatment 

Early on, infants and toddlers with CS often need medical care. This is due to major health issues (such as: airway, breathing, heart defects, tracheal and esophageal malformations, feeding issues). As an infant’s medical conditions stabilize, a focus on hearing, vision and development is vital. This will help the child to communicate and learn. Without the ability to effectively communicate, children with CS often have challenging behaviors. This is often due to frustration or used as another way to communicate. Some of these likely stem from chronic health issues and challenges with vision and hearing.  

Ongoing Care 

As the care of children with CS improves, the goal is to provide the right treatment as early as possible. It can be overwhelming to think about all of the child’s needs at once. It can help to think of all the ways that day-to-day events can be used to build the child's skills. Families know their child best, and their priorities and goals should stay at the forefront of their child’s care.   

Development of effective communication skills is a common challenge for children with CS. This can affect their day-to-day life. Most babies with CS have hearing and vision challenges that can delay their development. They often need long-term medical and educational support. Early and effective care and support  helps children with CS participate meaningfully at home, school and in their community.