DiGeorge Diagnostic & Treatment Center

DiGeorge syndrome is a genetic disorder that affects multiple organs in the body. DiGeorge syndrome is also known as “chromosome syndrome,” because it is caused by a deletion of part of chromosome 22. Since our DNA is the “instruction manual” for how our bodies and brains are formed, this missing information can cause medical, developmental and psychological issues. The specific organs affected, as well as the severity, vary greatly among individuals with DiGeorge syndrome.

Before the genetic cause was known, due to the variable nature of DiGeorge syndrome, different groupings of features were once described as separate conditions, such as velocardiofacial syndrome (VCFS). We now know these to be the same condition.

Below are some characteristic signs and symptoms of DiGeorge syndrome:

• Hypocalcaemia (low calcium): The parathyroid glands, located on the sides of the thyroid gland, are responsible for the maintenance of adequate levels of calcium in the blood. Problems with these glands can cause low calcium.
• Abnormal facial features: Some individuals with DiGeorge syndrome may have a small, underdeveloped chin, low set ears or heavy eyelids. Some children will have a cleft palate, an abnormality caused by a malformation of the tissues in the upper mouth.
• Cardiac abnormalities: Affected individuals may have a variety of heart defects, most often involving the aorta. In some cases, heart anomalies may be very mild or absent.
• Immunodeficiency: Most affected children will have immune defects affecting the T-lymphocyte (thymus) system that fights off fungal, viral and other infections. Children who have DiGeorge syndrome may experience more colds and ear infections than most children.

Children with DiGeorge syndrome may not all show the same symptoms or have the same organs involved but may show any of the signs mentioned above. In addition, they may also experience learning disabilities and behavioral problems due to missing genetic information.

Diagnosis of DiGeorge syndrome is based on signs and symptoms exhibited at birth or shortly after birth and can be confirmed with a blood test. Early and proper diagnosis of DiGeorge syndrome is important. While the disorder is not uncommon (approximately 1 in 4,000 people), some patients with DiGeorge syndrome will show few signs and symptoms, and may go undiagnosed.

Treatment for DiGeorge syndrome is a collaborative effort among many specialties. The condition itself cannot be cured, but we can treat the medical issues caused by DiGeorge syndrome.

• What causes DiGeorge syndrome?
• What are the symptoms of DiGeorge syndrome?
• What are the risk factors of DiGeorge syndrome?
• What can I do to improve my child's quality of life?
• Who provides the medical care for DiGeorge syndrome?

What causes DiGeorge syndrome?

DiGeorge syndrome is a genetic disorder that is caused by a small deletion near the middle of chromosome 22, at a location designated q11.2. More rarely, DiGeorge syndrome can be due to a deletion on the short arm of chromosome 10.

What are the symptoms of DiGeorge syndrome?

Below are some characteristic signs and symptoms of DiGeorge syndrome:

• Hypocalcaemia (low calcium): The parathyroid glands, located on the sides of the thyroid gland, are responsible for the maintenance of adequate levels of calcium in the blood. Problems with these glands can cause low calcium.
• Abnormal facial features: Some individuals with DiGeorge syndrome may have a small, underdeveloped chin, low set ears or heavy eyelids. Some children will have a cleft palate, an abnormality caused by a malformation of the tissues in the upper mouth.
• Cardiac abnormalities: Affected individuals may have a variety of heart defects, most often involving the aorta. In some cases, heart anomalies may be very mild or absent.
• Immunodeficiency: Most affected children will have immune defects affecting the T-lymphocyte (thymus) system that fights off fungal, viral and other infections. Children who have DiGeorge syndrome may experience more colds and ear infections than most children.

Patients with DiGeorge syndrome may not all show the same symptoms or have the same organs involved but may show any of the above mentioned signs. In addition, they may also experience learning disabilities and behavioral problems due to the missing genetic information.

What are the risk factors of DiGeorge syndrome?

DiGeorge syndrome is a genetic disorder that can either be passed down from a parent (inherited), or, more commonly, the deletion can occur as a random event during the formation of reproductive cells (eggs or sperm). If one parent is affected, he or she has a 50 percent chance of passing DiGeorge syndrome on to their child. In this case, the likelihood of a couple having multiple children with DiGeorge syndrome is as random as getting “tails” two times in a row when flipping a coin twice.

What can I do to improve my child's quality of life?

The best way to improve your child’s quality of life is to make sure his or her DiGeorge-related medical, psychological and behavioral conditions are being properly diagnosed and treated. The experts at Hope Children’s Hospital treat not only the condition, but the whole person.

Who provides the medical care for DiGeorge syndrome?

Our multidisciplinary team of pediatric experts provide decades of experience and compassionate care. We have a coordinated approach to treating all aspects of DiGeorge syndrome and offer ongoing support to you, your child, and the entire family.