What is DiGeorge Syndrome?

DiGeorge Syndrome (DGS) is a complex genetic disorder caused by a congenital defect in chromosome 22 that can lead to a variety of physical and developmental abnormalities. It is one of the most common causes of birth defects and can affect nearly every part of the body, including the heart, immune system, bones, teeth, and muscles. Despite its complex nature, however, there are treatments and therapies available for those who have DGS.

DiGeorge Syndrome Causes

DGS is caused by the missing or underdevelopment of certain components of the thymus, a gland in the neck that helps the body distinguish between different types of cells and helps to develop the immune system. The thymus can be damaged during fetal or postnatal periods, leading to deficiencies in the thymus’ ability to produce certain hormones and proteins necessary for the body’s functioning.

DiGeorge Syndrome Symptoms

The symptoms of DGS can vary depending on the particular features of the disorder, but some of the common characteristics include:

• Birth defects: Low set ears, webbed neck, short sternum, and abnormally wide spaced eyes.
• Cardiac Defects: Congenital heart defects, such as conotruncal defects (ventricular septal defects, Tetralogy of Fallot, etc.), hypoplastic left heart syndrome, and interrupted aortic arch.
• Immune system dysfunction: Autoimmune disorders, frequent infections, and poor response to vaccinations.
• Developmental delays: Poor motor skills, language, visual-motor coordination, and behavior and mood issues.
• Growth delays: Short stature, malnutrition, and delayed sexual maturation.

DiGeorge Syndrome Diagnosis

DiGeorge Syndrome is typically diagnosed with a physical examination and a thorough collection of medical history. Your doctor may order a variety of tests to check for genetic abnormalities, such as chromosomal studies, or a detailed exam of the thymus and other organs. A diagnostic test, such as a kidney biopsy, may also be completed if necessary.

DiGeorge Syndrome Treatment and Health Management

Treatments for DGS are highly personalized and oftentimes depend on the individual’s symptoms and severity of the syndrome. As such, your healthcare provider can work with you to develop a treatment plan that is uniquely suited for your needs.

The primary goal of treatment is to manage and correct any birth defects, manage respiratory and cardiac problems, stabilize any deficiencies in the immune system, monitor and treat any behavioral issues, and address any deficiencies in the forms of therapeutic treatments, surgeries, and medications.

In addition to these treatments, comprehensive follow-up care is an important component of managing DGS. Your healthcare team should have protocols in place to ensure that there is ongoing support and care. This may include regular visits with your doctor and other healthcare professionals, therapy sessions, and regular testing and monitoring.

Conclusion

DiGeorge Syndrome is a complex genetic disorder with a wide range of symptoms and possible medical complications. With timely diagnosis and appropriate treatment, however, individuals with DGS can lead a full and healthy life. It is important to remember that the underlying cause of DGS can not be cured, however, so the long-term management and supportive care is essential for optimal care and outcomes.