DiGeorge Syndrome (22q11.2 Deletion Syndrome)

DiGeorge Syndrome (22q11.2 Deletion Syndrome) is a genetic condition that affects the development of several body systems, especially the immune system, heart, and facial features. It occurs when a small piece of chromosome 22 is missing, which impacts the formation of the thymus gland and parathyroid glands. This leads to problems with the immune system, making it harder to fight infections, and can cause low calcium levels. Many people with this syndrome have heart defects and distinctive facial characteristics. It can also affect learning and behavior. Early diagnosis is important to manage the various health issues associated with this condition.

DiGeorge Syndrome (22q11.2 Deletion Syndrome) is a congenital disorder caused by a microdeletion on chromosome 22q11.2, resulting in abnormal development of the third and fourth pharyngeal pouches. This leads to hypoplasia or aplasia of the thymus and parathyroid glands, causing T-cell immunodeficiency and hypocalcemia due to impaired parathyroid hormone production. The syndrome is characterized by conotruncal cardiac defects such as tetralogy of Fallot, characteristic craniofacial anomalies, and variable neurodevelopmental delays. The deletion disrupts multiple genes, including TBX1, which is critical for pharyngeal arch development. The clinical significance lies in the multisystem involvement and increased risk of infections, cardiac complications, and developmental challenges.