22q11 DiGeorge Syndrome is a genetic disorder caused by a small missing piece of chromosome 22. It is also known as 22q11.2 deletion syndrome or DiGeorge anomaly. This condition affects various systems in the body and can lead to a wide range of symptoms and health problems.
Individuals with 22q11 DiGeorge Syndrome may experience developmental delays, learning difficulties, and behavioral issues. They may also have heart defects, immune system problems, and difficulties with feeding and swallowing. Additionally, this syndrome can affect the development of facial features, causing distinctive facial characteristics.
Diagnosis of 22q11 DiGeorge Syndrome is typically made through genetic testing. Treatment involves managing the specific symptoms and health issues associated with the syndrome. This may include interventions such as speech therapy, physical therapy, and surgeries to address heart defects or other structural abnormalities.
It is important for individuals with 22q11 DiGeorge Syndrome to receive comprehensive medical care and support from a multidisciplinary team of healthcare professionals to optimize their overall well-being and quality of life.