DiGeorge syndrome (22q11 deletion) Specialists in London

DiGeorge syndrome, also known as 22q11 deletion syndrome, occurs when a small part of chromosome 22 is missing. This genetic alteration can happen randomly during the formation of reproductive cells or early in fetal development, and it is not inherited from parents in most cases. The condition can lead to a variety of health issues. Individuals with DiGeorge syndrome may experience heart defects, immune system problems, cleft palate, and issues with calcium levels, which can result in seizures. Additionally, they may face developmental delays, learning difficulties, and psychiatric disorders later in life. The range and severity of these problems can vary significantly among affected individuals, making early diagnosis and intervention crucial for better management and support.