DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition that affects several parts of the body. It is caused by a defect in chromosome 22, resulting in poor development of several organs and systems. The severity of the condition can vary, and symptoms can range from mild to severe. Some signs and symptoms may be apparent at birth, while others may not appear until later in infancy or early childhood.

Symptoms of DiGeorge syndrome can include:

• Heart defects
• Learning difficulties
• Abnormal facial features
• Recurrent infections
• Hypoparathyroidism or hypocalcemia
• Developmental delay
• Mental health problems, such as schizophrenia and anxiety disorders

DiGeorge syndrome is caused by a missing piece of chromosome 22, known as 22q11 deletion, which usually occurs as a random event in the fathers sperm or in the mothers egg, or it may occur early during fetal development. It is not usually passed on to a child by their parents, but it is in a few cases. There is no cure for DiGeorge syndrome, but children and adults with the condition will be closely monitored to check for problems, and these can be treated as they happen, if needed. If youre concerned about a family history of 22q11.2 deletion syndrome, or if you already have a child with the syndrome, you may want to consult a doctor who specializes in genetic disorders or a genetic counselor for help in planning future pregnancies.