CHARGE Syndrome Definition

The CHARGE syndrome is a genetic disease with a wide range of symptoms and clinical pictures. A colomb of the eye, heart defect, atresia of the choans, reduced length growth and development delay, genital abnormality and an abnormality of the ear should be mentioned here in particular. Surgical corrections of the malformations are necessary. Many sick people can lead a relatively normal life within their means.

What is CHARGE Syndrome?

According to AbbreviationFinder, CHARGE syndrome, also known as CHARGE association or Hall-Hittner syndrome, is a rare genetic disorder. Two thirds of those suffering from CHARGE syndrome have one or more mutations in the CHD7 gene.

CHARGE is an acronym for the English names of medical conditions typically occurring in this syndrome are: C oloboma, H eart defect, A tresia choanae, R etarded growth and development, G abnormality Enital, E ar abnormality.


The causes of CHARGE syndrome lie in genetics. About two thirds of the patients with CHARGE syndrome have one or more mutations in the CHD7 gene. This gene codes for a specific protein that is involved in chromatin remodeling.

It regulates gene expression by influencing the strength of the bond between DNA and histones (basic proteins in the cell nucleus). The organs of the eye, ear and nose are particularly affected in CHARGE syndrome, as the protein is especially formed in the cells of these organs. The disease can be inherited in an autosomal dominant manner. However, a spontaneous mutation without a family history is more common.

Symptoms, ailments & signs

The term CHARGE is an acronym for the English names of the diseases that occur frequently in this syndrome. These diseases are as follows:

Colomb: A congenital coloboma of the eye. The cleft of the eye cup does not close completely here. Due to this fact, a visual defect develops. A number of visual disturbances can occur. Among other things, visual field loss or light sensitivity should be mentioned. Other eye problems, such as detachment of the retina, are also possible.

Heart defect: heart defect. With CHARGE syndrome, various heart defects can occur, some of which require surgical treatment.

Atresia choane: Atresia of the choans. The nasal passages in CHARGE syndrome can be blocked or unusually narrowed. Surgical treatment is sometimes necessary several times in order to keep the corridors permanently open.

Retarded growth and development: Decreased growth and development delay. This symptom is present in almost every patient in CHARGE syndrome. In any case, a doctor should rule out the possibility of delayed growth due to a lack of growth hormones. It is assumed that the development delays are due to the various impairments of the sensory organs, chronic diseases and disorders of balance.

Genital abnormality: Genital abnormality. In people with CHARGE syndrome, the genital abnormality primarily affects the external genital organs, making this symptom easier to detect in male patients. These often have a reduced penis and non-palpable testicles. Reduced outer labia may be found in female patients.

Ear abnormality: abnormality of the ear. In CHARGE syndrome, both the inner, middle and outer ear can be affected. Common problems include malformations of the bones in the middle ear, chronic accumulation of fluid in the middle ear, a narrow or missing ear canal, unusually shaped outer ears and hearing loss.

Not every person affected by the CHARGE syndrome has all the symptoms or clinical pictures and these do not always have to be very pronounced; the presence of some of these symptoms and only weak symptoms can represent a CHARGE syndrome.

Diagnosis & course

The diagnosis of CHARGE syndrome is divided into main features and secondary criteria. The diagnosis is made based on these features and criteria. The main criteria are coloboma of the eye, choanal atresia, a characteristic CHARGE ear, the deformity of the facial nerves (can lead to loss of sense of taste, facial paralysis, impaired sound and balance, problems with swallowing).

The secondary criteria are an underdevelopment of the sexual organs, a development delay, heart defects, short stature, the formation of gaps in the facial area (can lead to further problems), tracheal fistulas, as well as the characteristic CHARGE face – there may be an asymmetry of the face, even if the face is not paralyzed is; An angular face shape with a broad, protruding forehead, sagging songs, a flat middle face and a small chin is also common.

Children born with CHARGE syndrome often require emergency surgery, long hospital stays, and constant medical supervision. In the course of the life of those affected, the need for surgical interventions increases. However, the condition often improves beyond what is initially expected.

The number of adults with the CHARGE syndrome is relatively low, which can be attributed to the fact that the CHARGE syndrome has only existed as a disease in its own right since 1979. The number of adults living with the CHARGE syndrome will therefore increase within the next few years, so that statements can then be made about the conditions to be expected and the necessary surgical interventions in adulthood.

It can be said that a good development can be achieved very easily within the framework of the given possibilities. However, this requires support from medical and educational specialists. Parents in particular can have a positive influence on the development of their child with CHARGE syndrome by encouraging them as much as possible.

Parents should learn to understand their child’s difficulties associated with CHARGE syndrome. In this way, you can offer him the support he needs so that he can fully exploit his possibilities.


CHARGE syndrome causes a number of different ailments and symptoms. In most cases, various malformations and delayed development occur. The person concerned primarily suffers from a congenital heart defect. In the worst case, this can lead to the death of the patient without treatment and must therefore be treated surgically.

Furthermore, there is a strong short stature and also a greatly delayed mental and psychological development. In many cases the patient is dependent on the help of other people in everyday life and cannot cope with it alone. Balance disorders and sensitivity disorders occur. These can extremely restrict the quality of life.

The malformations can also affect the genital organs and lead to abnormalities in them. It is not uncommon for those affected to be ashamed of these complaints and suffer from inferiority complexes as a result. CHARGE syndrome also leads to hearing loss.

A causal treatment of CHARGE syndrome is not possible. However, various surgical interventions can be used to relieve and limit the symptoms and symptoms of this disease.

When should you go to the doctor?

In most cases, CHARGE syndrome does not need to be re-diagnosed. The symptoms can be recognized before the birth or immediately after the birth, so that early treatment is also possible. A doctor should be consulted if the symptoms and malformations of this syndrome lead to restrictions and dangers in the child’s everyday life. Above all, the child’s heart and kidneys must be examined so that surgical interventions can be carried out in the event of illness.

The delayed development and mental retardation can be compensated for with special support. A doctor should also be consulted if there is a genital abnormality. If the person concerned has hearing problems or malformations of the ears, these symptoms must also be alleviated and treated. This can prevent complete deafness. In most cases, the symptoms will be diagnosed by a pediatrician. The treatment itself is then carried out by the respective specialist.

Treatment & Therapy

A causal treatment is not possible, the therapy consists mainly in the surgical removal of the symptoms, if this is possible. Most of the corrections to the malformations are necessary. Long hospital stays are common as part of these operations.

Outlook & forecast

As a rule, the CHARGE syndrome does not result in a reduced life expectancy for the patient. The individual malformations and deformities on the body are corrected in various surgical interventions. While these are associated with side effects and risks, they are the only way to treat CHARGE syndrome.

If no treatment occurs, there will be no self-healing, but neither will the symptoms worsen. After the corrections, those affected can lead an ordinary life in most cases and are not restricted in their everyday life. A causal treatment of the disease is not possible, however, as it is a hereditary disease. No further complaints or compilations occur after successful operations.

If the symptoms of CHARGE syndrome are not corrected, those affected often suffer from psychological complaints or depression. Since the nasal passages can also be blocked in some cases, an immediate operation is necessary, as the child would otherwise die immediately after birth. The mental retardation and slowed development can only be treated to a limited extent in CHARGE syndrome. As a rule, the patients suffer from mental retardation their entire life and are therefore dependent on outside help in their everyday life.


Since it is a genetic and also very rare disease, prevention is not possible.


As a rule, direct follow-up care cannot be carried out in the case of CHARGE syndrome. The individual symptoms must be treated depending on their severity, whereby the person affected can usually lead an ordinary life without restrictions.

Early diagnosis and treatment of the CHARGE syndrome have a very positive effect on the further course and can prevent complications. Since the treatment of the syndrome mainly takes place with the help of surgical interventions, the person concerned has to recover after these interventions and generally be prepared for longer stays in a hospital.

The contact with family and friends can also be very positive and have a positive effect on the course of the disease. However, the symptoms cannot always be completely eliminated, so a complete cure cannot always be achieved. Since the CHARGE syndrome is often associated with psychological complaints, psychological treatment should always be carried out.

Parents or relatives can also take part in this psychological treatment, as they are also affected by the disease. Due to the slowed development of the children, they are dependent on permanent support to compensate for this.

You can do that yourself

CHARGE syndrome is a genetic disease that cannot be treated causally. Serious malformations, especially of the heart, can, however, already be detected during the prenatal diagnosis. Since the syndrome can be inherited, pregnant women whose families or families-in-law have already been diagnosed with the disorder should undergo all preventive examinations and speak to the doctor treating them about the CHARGE syndrome.

If severe malformations or developmental disorders are to be expected, a medically indicated termination of pregnancy is possible. Parents who decide to carry the pregnancy to term should be aware of the particular burdens they will face in good time.

Children who suffer from CHARGE syndrome usually need one or more emergency operations right after birth. Treatment of the disease is very intensive, especially during the first few years, and is associated with regular hospital stays, visits to the doctor and permanent home nursing. This not only stresses the parents concerned, but also any existing siblings. The families must therefore take organizational measures in good time to integrate the sick child and his or her special needs into everyday family life and work.

In order to guarantee optimal support for the child according to his or her possibilities, not only competent doctors but also other specialists, for example special educators, speech therapists and physiotherapists, should be called in at an early stage.

CHARGE Syndrome