Every child is unique, but when you’re told your child has a genetic condition like 22q11.2 deletion syndrome, it can bring both answers and new questions. You might feel relief at finally having an explanation, confusion about what the diagnosis means, or concern about what lies ahead.
What makes this condition particularly important to know about is that it’s one of the most common, but often unknown, genetic syndromes. Despite its frequency, many families (and even some professionals) may not have heard of it before diagnosis.
In this blog, we unpack what 22q11.2 deletion syndrome actually is, how it can affect children and families, and why understanding this genetic difference can help guide the right care, support, and connection.
What Is 22q11.2 Deletion Syndrome?
Also known as DiGeorge syndrome or velo-cardio-facial syndrome (VCFS), 22q11.2 deletion syndrome (or del22q11) is caused by a small missing section of genetic material on chromosome 22, specifically on the long arm (the “q arm”) at position 11.2.
It affects approximately 1 in every 2,000 to 6,000 live births, making it more common than many well-known genetic conditions. It’s also believed to occur in around 1 in 1,000 pregnancies, though many cases go undiagnosed or are misdiagnosed for years due to the wide variation in how it presents.
This missing genetic section usually includes 30 to 40 genes, many of which are essential in early development. As a result, del22q11 can influence a range of body systems, affecting how a person grows, learns, and interacts with the world.
Yet no two individuals with this syndrome are exactly alike. Some children experience only mild impacts, while others may face complex medical and developmental challenges. It’s truly a genetic puzzle where the missing piece looks different for every individual.
Common Features and Challenges
Some of the more common differences associated with 22q11.2 deletion syndrome include:
- Heart defects, often present at birth
- Cleft palate or velopharyngeal insufficiency affecting speech
- Immune system difficulties, leading to frequent illness
- Low calcium levels, particularly in infancy
- Low muscle tone, feeding difficulties, or gastrointestinal concerns
- Dental, vision, and hearing issues
- Autoimmune conditions
Developmentally, many children walk, talk, or toilet later than expected. Learning differences are common, particularly in mathematics, memory, and processing speed. Some children have intellectual disabilities, while others have average cognitive ability but benefit from learning support.
Mental health differences also occur more often in this group, including anxiety, attention difficulties, and sometimes autism or ADHD. A smaller number of young people may be at increased risk of developing depression or psychosis in adolescence or adulthood. While this can sound alarming, early emotional support and monitoring can make a positive difference.
Why and How Does It Happen?
In most cases, del22q11 is a random (de novo) mutation that occurs during the formation of reproductive cells or early in embryonic development. It’s not caused by anything a parent did or didn’t do. However, in about 10% of cases, the deletion is inherited from a parent who also carries it. Indeed, there’s a 50% chance of passing it on with each pregnancy if a person has the syndrome.
Because the syndrome varies so widely and may not present with obvious signs at birth, some people go undiagnosed until concerns about learning, development, or health emerge.
Why a Diagnosis Matters
A confirmed diagnosis can be life-changing for families. It clarifies the “why” behind a child’s health or learning challenges and opens up pathways to targeted support and intervention.
A diagnosis also:
- Helps doctors monitor for known medical risks (e.g. heart, immune, calcium)
- Allows therapists and educators to tailor support plans
- Connects families with genetic counselling for future family planning
- Links families to support networks and community groups
- Informs research and contributes to a greater understanding of developmental diversity
Looking to the Future
Knowing your child has 22q11.2 deletion syndrome allows you to be proactive. You can advocate for their needs, prepare for transitions (like starting school or adolescence), and connect with others who truly understand.
Early intervention, emotional support, and well-informed professionals make a real difference in quality of life. While one’s path might look different from another, it’s one filled with possibility, strengths, and connection.
In Summary
22q11.2 deletion syndrome is common but under-recognised—a genetic condition that impacts each individual in a unique way. Learning more about it doesn’t just help families access medical and educational support—it also helps build a sense of community, resilience, and direction.
If your child has recently been diagnosed, know this: you are not alone. Support, understanding, and knowledge are available, and your child is still the same wonderful, capable, and lovable person they were before the diagnosis.
To learn more, register for our on-demand webinar “Talking about 22q with my child“. You might also be interested in the book Chromosome Magic: The Science of 22q and You by Dr Linda Campbell (published by 22qMinded). To learn more, you might also be interested in the book The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment by Donna McDonald-McGinn, or you may want to visit some of the local support groups’ webpages. The 22q Foundation Australia and New Zealand has some excellent resources, and so do many others.
