What is DiGeorge syndrome?
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition caused by missing a small piece of chromosome 22. Most cases are not inherited but occur by chance; in a few families it can be passed from a parent who carries the deletion. It affects many parts of the body, so people with it can have different features.
Common features
- Heart problems—congenital heart defects such as certain conotruncal defects may be present.
- Immune system issues due to an abnormally developing thymus, which can lead to infections early in life; many improve with age.
- Calcium problems from underdeveloped parathyroid glands, which can cause low calcium (hypocalcemia) and symptoms like muscle cramps or seizures if not treated.
- Speech and palate issues such as a cleft palate or velopharyngeal insufficiency that can affect speech.
- Face and growth differences—sometimes subtle facial features; many people look typical.
- Learning and behavior differences, including language delays, learning difficulties, ADHD, or autism spectrum features in some individuals.
- Kidney and other differences are less common but can occur.
How it is diagnosed
Diagnosis is usually confirmed with genetic testing that looks for the 22q11.2 deletion, using tests such as chromosomal microarray (aCGH) or FISH. Sometimes the diagnosis is considered after noticing several related health issues together.
How it is managed
- Medical care from a team: cardiology for heart issues, endocrinology for calcium or hormones, immunology for immune status, and ENT/speech therapy for feeding and speech.
- Development and education support: early intervention, speech and language therapy, occupational therapy, and tailored education plans if needed.
- Genetic counseling to discuss recurrence risk and what it means for family planning.
What does this mean for a 16-year-old?
Many 16-year-olds with the condition attend school and participate in activities with supports. Regular follow-up with doctors helps monitor heart, immune function, calcium levels, and development. If you’re studying this topic, talk with a clinician about personalized information and resources.