DiGeorge Syndrome

Definition

DiGeorge Syndrome is a genetic disorder caused by a deletion of a small segment of chromosome 22, leading to various health issues including immune deficiency, heart defects, and developmental delays. This syndrome is closely linked to immunodeficiency disorders as it often results in a reduced number of T cells due to thymic hypoplasia, impacting the body’s ability to fight infections and increasing susceptibility to autoimmune conditions.

5 Must Know Facts For Your Next Test

1. DiGeorge Syndrome can be detected using genetic testing, specifically looking for deletions on chromosome 22.
2. Patients with DiGeorge Syndrome often present with characteristic facial features, such as a long face and low-set ears, alongside their other medical conditions.
3. The syndrome can lead to multiple health complications, including congenital heart defects, hypoparathyroidism, and increased risk for infections.
4. Management of DiGeorge Syndrome typically involves addressing individual symptoms, such as heart surgery for defects or immunotherapy for immune deficiencies.
5. Individuals with DiGeorge Syndrome may have learning disabilities and behavioral issues, necessitating special education services and support.

Review Questions

• How does the genetic deletion associated with DiGeorge Syndrome affect the immune system?
  • The genetic deletion associated with DiGeorge Syndrome primarily affects the development of the thymus gland, leading to thymic hypoplasia. This results in a significantly reduced production of T cells, which are essential for a properly functioning immune system. Consequently, individuals with this syndrome often experience severe immune deficiencies that make them more susceptible to infections and complications from otherwise manageable illnesses.
• Discuss the various health issues that may arise in individuals diagnosed with DiGeorge Syndrome beyond immunodeficiency.
  • Beyond immunodeficiency, individuals with DiGeorge Syndrome may face a variety of health challenges including congenital heart defects, which can require surgical intervention. Additionally, they might experience hypoparathyroidism leading to calcium imbalances and potential seizures. Many patients also exhibit characteristic facial features and developmental delays that can impact their learning and social interactions, necessitating comprehensive management strategies to address these diverse issues.
• Evaluate the long-term implications for patients with DiGeorge Syndrome regarding their healthcare needs and quality of life.
  • Patients with DiGeorge Syndrome often require ongoing healthcare support due to the multiple systems affected by the condition. Long-term implications include regular monitoring for immune function, cardiovascular health, and developmental progress. Access to specialized medical care is crucial for managing complications as they arise. Furthermore, these individuals may benefit from educational support and psychological counseling to help navigate their challenges, thereby improving their overall quality of life and ensuring better long-term outcomes.

Related terms

Thymic Hypoplasia: A condition where the thymus gland is underdeveloped, resulting in impaired T cell production and function, commonly seen in DiGeorge Syndrome.

Chromosome 22: The chromosome that contains the genes affected in DiGeorge Syndrome; its deletion leads to the various symptoms associated with this disorder.

Immune Deficiency: A state where the immune system's ability to fight infectious disease is compromised or entirely absent, which is a key feature of DiGeorge Syndrome.