DiGeorge Syndrome - Causes, Signs, Complications and Management

What Is DiGeorge Syndrome?

DiGeorge syndrome usually appears at birth or within a few months after birth. It is a disorder created by development defects related to body parts. The defects are usually related to face, heart, and immune system abnormalities. There are 1 out of 4,000 people in the United States diagnosed with this syndrome. It is also known as deletion syndrome, as a small part of chromosome 22 is deleted in this disorder. The part that is deleted is the middle portion of the chromosome designated as q11.2. The deletion of the portion of the chromosome not only affects the heart and face but also affects the muscles that are the base of the mouth formation. This can cause difficulties in closing and opening the mouth.

Moreover, children with this syndrome often have abnormalities and dysfunction related to kidneys, breathing, and speech. Many of the children with this disorder are seen with developmental delays in their growth and intellectual development. Furthermore, children with this syndrome are seen with autism spectrum disorder affecting their communication and social skills.

What Are the Causes Behind DiGeorge Syndrome?

The reason behind this disorder is explained further:

• The only cause behind this syndrome is the deletion of 22q11. In other words, it is the small piece of genetic material missing from a person’s DNA (deoxyribonucleic acid). As the deletion of the piece is missing from many genes that are close to each other, this process is known to be somewhat contiguous.

• The deletion of these particular genes is known to be the reason behind many characteristics of this syndrome. For instance, mental and behavioral changes and developmental abnormalities such as cleft palate can be noted.

• Deletion of these genes is also considered genetically inherited. It is autosomally inherited because the deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition.

What Are the Signs and Symptoms of Digeorge Syndrome?

There are many symptoms associated with this syndrome, such as:

• Learning and Behavior Problems: This includes delayed learning defects such as hyperactivity disorder and delayed development of walking abilities in children.

• Speech and Hearing Loss: There is delayed development of speech in the children seen. Also, due to frequent ear infections, hearing loss is one of the symptoms seen with this syndrome.

• Feeding Problems: Owing to a developmental abnormality of the root of the muscle in the mouth, this syndrome shows the symptoms such as cleft palate. As a result, children with this disorder have difficulties in feeding.

• Heart Defects: Children born with this syndrome have heart-related defects.

• Hormonal Imbalance: Due to the parathyroid gland’s involvement, the children may face hormonal imbalance later in their life.

• Recurrent Infection: Due to immature immune system development, children often face many infections, such as ear infections, oral thrush (fungal infection of the oral cavity), or chest infections.

• Bone and Joints Related Problems: There is rheumatoid arthritis (an inflammatory disorder affecting joints of hands and feet) and spine-related abnormalities seen with this syndrome. As a result, the children often complain of joint and bone pain.

• Mental Health Problems: Children with this disorder often have a mental illness such as schizophrenia (a mental disorder that affects a person's ability to think and behave clearly).

Along with that, some other signs and symptoms include -

• Poor muscle tone.

• Breathing difficulties.

• Certain facial features, such as an underdeveloped chin, low-set ears, or wide-set eyes.

• Heart murmur and bluish skin due to poor circulation of oxygen-rich blood as a result of heart-related abnormality.

What Are the Complications Associated With DiGeorge Syndrome?

The complications related to the syndrome are:

• Heart Defects: There are often heart-related defects seen associated with this syndrome. As a result, there is also insufficient oxygen supply in the blood. There are many defects that cause life-threatening complications in children. For instance, a hole between the two lower chambers of the heart, only one large vessel, or a combination of four abnormal heart chambers.

• Hypoparathyroidism: There are a total of four parathyroid glands in the body. They are responsible for the regulation of the calcium and phosphorus in the body. DiGeorge syndrome causes abnormally small size of the parathyroid glands. As a result, the secretion of calcium and phosphorus in the body is also reduced to a significant level.

• Thymus Gland Dysfunction: The thymus gland is located beneath the breasts. It plays an essential part in the maturation of T-cells and white cells. These cells are very important for the immune system of the body. Due to this syndrome, there is often a smaller-sized or missing thymus gland seen in the body. Owing to this, the immune system of the body is compromised, resulting in frequent infections of the body.

• Cleft Palate: When there is an opening on the roof of the mouth seen at the time of birth, it is known as the cleft palate. Due to this complication, the children often face difficulties in feeding and speech. As a result, the lack of nutrition is often associated with this syndrome.

• Learning and Behavior Problems: Deletion of the portion of the chromosome can affect the development and function of the brain. As a result, the children often have learning difficulties, delayed speech development, and many other behavioral abnormalities.

How to Manage DiGeorge Syndrome?

• Currently, there is no known cure for DiGeorge syndrome. However, due to many complications associated with the syndrome, children and adults are recommended for close monitoring and regular follow-up visits.

• Moreover, they are recommended to go for support therapy for speech and hearing loss.

• Children with feeding problems are recommended to make significant changes in their diet.

• For delayed walking or walking disabilities, the children are recommended ortho shoes for leg pain and walking support.

• Children with heart problems are immediately recommended for surgical support for the disorder.

Conclusion:

DiGeorge syndrome is a rare disorder with autosomal inheritance. Children with this condition should be provided with extra care by their parents or caregivers. As the condition still does not have preventive options, it is best to go for regular follow-up visits and seek immediate hospital care for the complications such as heart defects.