DiGeorge Syndrome (22q11.2 deletion syndrome)

DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition caused by the deletion of a small segment of chromosome 22. This deletion affects multiple body systems and can lead to a wide range of physical, developmental, and immune-related problems. The severity and combination of features vary greatly among individuals.

Symptoms

Symptoms of DiGeorge syndrome differ widely and may be present at birth or appear later in life:

• Congenital heart defects

• Facial features such as a small chin, low-set ears, or wide-set eyes

• Delayed growth and development

• Learning difficulties or developmental delays

• Speech and language problems

• Weak immune system leading to frequent infections

• Low calcium levels causing muscle cramps or seizures

• Behavioral or mental health issues

Causes

DiGeorge syndrome is caused by a genetic abnormality:

• Deletion of a segment on chromosome 22

• Disrupted development of the thymus, parathyroid glands, and heart

• Usually occurs spontaneously during fetal development

• Rarely inherited from a parent with the same deletion

Risk Factors

Certain factors may increase the likelihood of having a child with DiGeorge syndrome:

• Parent carrying the 22q11.2 deletion

• Family history of the syndrome

• Advanced parental age in some cases

• No known environmental risk factors

Complications

DiGeorge syndrome can lead to long-term medical and developmental challenges:

• Serious heart conditions

• Recurrent infections due to immune deficiency

• Low calcium levels affecting nerve and muscle function

• Developmental and learning difficulties

• Behavioral and psychiatric disorders

• Feeding and growth problems

Prevention

There is no known way to prevent DiGeorge syndrome, but early diagnosis and management improve outcomes:

• Genetic counseling for families with a history of the condition

• Prenatal genetic testing when indicated

• Early medical and developmental interventions

• Regular monitoring of immune function and calcium levels

• Coordinated care involving multiple specialists