What is DiGeorge Syndrome?
DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition that occurs when a small piece of chromosome 22 is missing. This missing genetic material can affect how different parts of the body develop.
DiGeorge Syndrome can impact several systems in the body, including the heart, immune system, and development. Because the condition can affect people in different ways, the symptoms and challenges can vary from child to child.
How Common Is DiGeorge Syndrome?
DiGeorge Syndrome occurs in approximately 1 in every 4,000 births, making it one of the more common genetic deletion syndromes. Many cases occur randomly during early development in pregnancy, and most families have no prior history of the condition.
Common Features of DiGeorge Syndrome
Children with DiGeorge Syndrome may experience a range of medical or developmental challenges. Some of the most common include:
• Congenital heart defects
• Immune system differences
• Feeding difficulties in infancy
• Developmental delays
• Learning challenges
• Speech or communication delays
Not every child with DiGeorge Syndrome will experience all of these symptoms. The condition can present very differently from one child to another.
The Connection Between DiGeorge Syndrome and CHD
Many children with DiGeorge Syndrome are born with congenital heart disease. Certain heart defects are more commonly associated with the condition, which is why doctors may test for the syndrome if a baby is born with a complex heart defect.
Because of this connection, children with DiGeorge Syndrome often receive care from multiple specialists, including cardiologists, genetic specialists, immunologists, and developmental therapists.
Diagnosis
DiGeorge Syndrome is usually diagnosed through genetic testing that identifies the missing piece of chromosome 22. Sometimes the diagnosis happens shortly after birth if medical concerns are present, while in other cases it may not be diagnosed until later in childhood.
Living with DiGeorge Syndrome
While DiGeorge Syndrome can bring medical and developmental challenges, many children grow, learn, and thrive with the support of medical care, therapies, and strong family support.
Early medical care and developmental services can make a significant difference in helping children reach their full potential.
Raising Awareness
At Opal’s Workshop of Love Project, awareness for both congenital heart disease and related conditions like DiGeorge Syndrome is deeply personal. Our daughter, Opal May, was born with a severe and complex heart condition and was also diagnosed with DiGeorge Syndrome.
Her journey inspires our mission to support children and families facing medical challenges and to help raise awareness so other families can find resources, community, and hope.
Every child’s story matters.
Every child’s life matters.