What Is DiGeorge Syndrome?

DiGeorge syndrome (DGS) is a genetic disorder that can cause heart defects, poor functioning of a child’s immune system and cleft palate, among other conditions. It arises during fetal development and manifests with a range of symptoms that vary in incidence and severity among children.

This disorder has been linked to chromosome 22 in the human body. A number of other disorders such as velocardiofacial syndrome and Shprintzen-Goldberg syndrome have also been linked to the development of chromosome 22 in fetal tissue. These disorders along with DiGeorge are often also commonly referred to together as 22q11.2 deletion syndrome.

What Causes DiGeorge Syndrome?

DiGeorge syndrome occurs when a portion of chromosome 22 is deleted in a developing fetus. A chromosome is found in the nucleus of most living cells, carrying the genetic information to create more cells. Each person has two copies of chromosome 22, which they inherit from each parent.

In a child with DiGeorge syndrome, the deleted portion of chromosome 22 adds up to missing 30 to 40 genes. The specific roles and function of these genes is still not well understood, but they are known as the 22q11.2 region of chromosome 22.

The deletion of these genes can occur in the father’s sperm, mother’s egg or during the early stages of fetal development. In rare cases, this deletion can be inherited from a parent also missing genetic information in chromosome 22.

What Are the Symptoms of DiGeorge Syndrome?

Because the number and severity of symptoms that arise due to DiGeorge syndrome, children often receive treatment from a variety of specialists including craniofacial surgeons, pediatric cardiologists and hematologists.

Some of the symptoms of DiGeorge syndrome may be present in babies at birth, however, other symptoms may only appear over time during infancy and early childhood. DiGeorge syndrome can affect different organ systems and body structures, so some children will not

Heart defects are a common feature of DiGeorge syndrome, so babies may experience blood and circulation problems. Cyanosis, a condition arising from poor circulation that causes a baby’s skin to become bluish in color, can be a sign of a heart problem.

DiGeorge syndrome is often associated with hypoparathyroidism, which causes a calcium deficiency in a baby’s blood. It also often impacts how the thymus gland functions. Impairment of the thymus gland leads to a decreased functioning of a child’s immune system.

Cleft palate is another common feature of DiGeorge syndrome. Cleft palate can lead to difficulty with feeding and gastrointestinal problems for infants.

What Are the Treatments for DiGeorge Syndrome?

Although there is no cure for DiGeorge syndrome, treatments can usually correct critical problems, such as a heart defect or severely low calcium levels. Other health issues and developmental, behavioral or mental health problems can be addressed or monitored as needed.

Medication and procedures that treat the different disorders that arise from DiGeorge syndrome exist and can be used to boost a child’s development and help them function normally in the world.

Calcium and vitamin D supplements are commonly used to help with hypoparathyroidism, and mild impairment of the thymus gland function does not typically require care or vaccination that is different from other children.

Severe thymus dysfunction can lead to severe and even life-threatening infections. Bone marrow and blood transplants are often used to treat this condition. Cleft palate and heart defects usually require surgical treatment.

Depending the features of DiGeorge syndrome in a child, different therapies can help them make up for any developmental delay caused by its disorders. Speech therapy, occupational therapy and developmental therapy can all benefit a child suffering from DiGeorge syndrome.