DiGeorge Syndrome

Definition

DiGeorge Syndrome is a genetic disorder caused by a deletion of a small segment of chromosome 22, leading to the underdevelopment of several systems, particularly the immune system. This syndrome is characterized by a variety of clinical features including cardiac defects, facial dysmorphisms, and especially, a significant impairment in T-cell development which results in immunodeficiency. Individuals with DiGeorge Syndrome often exhibit increased susceptibility to infections and other complications due to their compromised immune response.

5 Must Know Facts For Your Next Test

1. DiGeorge Syndrome occurs in approximately 1 in 4,000 live births and is one of the most common genetic causes of immunodeficiency.
2. Individuals with DiGeorge Syndrome may also have other health issues such as hypoparathyroidism, leading to low calcium levels and associated symptoms.
3. The severity of symptoms can vary widely among affected individuals, with some experiencing mild health issues while others face significant life-threatening complications.
4. Early diagnosis through genetic testing and clinical evaluation is crucial for managing the associated health problems effectively.
5. Management of DiGeorge Syndrome often includes monitoring for infections, addressing cardiac defects, and potentially providing thymus transplants to improve immune function.

Review Questions

• How does the chromosomal deletion in DiGeorge Syndrome affect the development and function of the immune system?
  • The chromosomal deletion in DiGeorge Syndrome primarily affects the development of the thymus gland, which is essential for the maturation of T-cells. Without a properly developed thymus, the production and function of T-cells are severely impaired, leading to a compromised immune system. This results in increased vulnerability to infections, making it critical for individuals with this syndrome to receive appropriate medical care and monitoring.
• Discuss the various clinical manifestations associated with DiGeorge Syndrome beyond immune deficiencies.
  • Beyond immune deficiencies, DiGeorge Syndrome presents with a range of clinical manifestations such as congenital heart defects, characteristic facial features like wide-set eyes and a small jaw, and developmental delays. Hypoparathyroidism is another significant concern that can lead to low calcium levels, causing muscle spasms or seizures. Understanding these diverse manifestations is important for comprehensive care and management of affected individuals.
• Evaluate the long-term implications of DiGeorge Syndrome on an individual's health and quality of life.
  • The long-term implications of DiGeorge Syndrome can be profound, affecting various aspects of an individual's health and quality of life. Many face chronic health issues related to their immune deficiency, requiring ongoing medical attention and treatment strategies to prevent infections and manage other conditions like cardiac anomalies. Additionally, psychosocial factors such as developmental delays can impact educational opportunities and social interactions. Therefore, a multidisciplinary approach to care is essential to improve outcomes and enhance quality of life for those affected by this syndrome.

Related terms

Chromosomal Deletion: A genetic abnormality where a portion of a chromosome is missing or deleted, which can lead to various developmental disorders, including DiGeorge Syndrome.

Thymus:

A small organ located behind the sternum where T-cells mature; its underdevelopment in DiGeorge Syndrome leads to impaired immune function.

T-Cell Immunodeficiency: A condition characterized by a reduced ability of the body to produce T-cells, crucial for adaptive immunity, commonly seen in individuals with DiGeorge Syndrome.