DiGeorgesyndrome

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a deletion of a small piece of chromosome 22. This deletion can lead to a wide range of health problems, affecting various parts of the body. The severity and specific symptoms can vary greatly from person to person, even within the same family.

Common features of DiGeorge syndrome include heart defects, problems with the immune system due to underdeveloped thymus gland, low calcium levels caused by parathyroid gland issues, and characteristic facial features. Individuals may also experience developmental delays, learning disabilities, speech and feeding difficulties, and behavioral or psychiatric problems. The palate is frequently affected, leading to cleft palate or other palatal abnormalities.

Diagnosis typically involves genetic testing to identify the deletion on chromosome 22. Management of DiGeorge syndrome is based on the individual's specific symptoms and often requires a multidisciplinary team of specialists, including cardiologists, immunologists, endocrinologists, developmental pediatricians, and speech therapists. There is no cure for DiGeorge syndrome, but treatments can help manage the associated health issues and improve quality of life. Early diagnosis and intervention are crucial for optimal outcomes.