DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. This condition is named after Dr. Angelo DiGeorge, who first described it in the 1960s. The missing segment of chromosome 22 leads to a wide range of medical problems and developmental issues.
Individuals with DiGeorge syndrome often exhibit various physical abnormalities, including heart defects, cleft palate, distinct facial features, and poor immune system functioning. In addition to these physical characteristics, people with DiGeorge syndrome may experience learning disabilities, developmental delays, and emotional or behavioral issues.
Because the syndrome affects multiple systems of the body, individuals with DiGeorge syndrome may require medical interventions and ongoing care from a variety of specialists, such as cardiologists, immunologists, speech therapists, and psychologists. Treatment options vary depending on the specific symptoms and may include surgical interventions, medication, therapy, and special education services.
DiGeorge syndrome can vary widely in its severity and presentation. Some individuals may only exhibit mild signs and symptoms, while others may have more significant health challenges. Early diagnosis, usually through genetic testing, is crucial to ensure appropriate medical care and support for affected individuals.
Overall, DiGeorge syndrome refers to a genetic condition characterized by the deletion of a portion of chromosome 22, leading to a range of physical, developmental, and behavioral issues that require ongoing medical management and support.
