22q11.2 deletion syndrome (DiGeorge)

What 22q11.2 deletion syndrome is

22q11.2 deletion syndrome is a genetic condition. Every one of us carries our genes on tiny threads called chromosomes, and in children with 22q a small piece of chromosome 22 is missing from birth. The missing piece sits at a spot geneticists label 22q11.2, which is where the condition gets its name. Because that little stretch of DNA holds several genes at once, its absence can touch many different parts of the body, which is why one child's experience of 22q can look so different from another's.

You may hear it called by older names, including DiGeorge syndrome and velocardiofacial syndrome. These once described what looked like separate conditions before doctors realized they share the very same underlying cause. Today they are grouped under one umbrella term, 22q11.2 deletion syndrome, often shortened simply to 22q. It is considered one of the more common chromosomal deletion syndromes, and there are dedicated clinics, foundations, and communities built around it.

If your child was recently diagnosed, take a breath. A diagnosis does not change who your child is. It gives you and your care team a map, a name for what you may already have sensed, and a growing body of knowledge and support to draw on. Your child is still your child, and this guide is here to help you feel a little less alone with the next steps.

A diagnosis is not a forecast of a whole life. It is the beginning of a plan, and the start of finding your people.

How it can affect a child day to day

22q is one of the most variable genetic conditions known. Two children with the exact same deletion, even siblings, can be affected in very different ways and to very different degrees. Some children have significant medical needs from birth, while others have mostly mild features noticed only later. Your child will have their own combination, so read the list below as a map of what a care team watches for, not a checklist of what your child will have.

• Heart. Some babies are born with a heart difference, which is often how 22q is first suspected. Cardiology follows these closely, and many are treatable.
• Immune system. Part of the immune system can be underdeveloped, so some children catch infections more easily, especially early in life. This often improves with age.
• Calcium levels. The glands that regulate calcium can be affected, so calcium levels are monitored and, when low, managed by a doctor.
• Palate, feeding, and speech. Differences in the roof of the mouth can make early feeding harder and can affect the sound and clarity of speech, which speech and feeding therapists help with.
• Development and learning. Many children have developmental or learning differences and reach some milestones later. Early support makes a real difference here.
• Attention, mood, and mental health. Children with 22q have higher chances of things like anxiety, attention differences, and autism, and mental health is watched into the teen and adult years. Knowing this early means support can be there before it is urgent.

None of this is destiny. Many of these areas are watched simply so that help can arrive early if it is needed. Always talk through your own child's symptoms and monitoring with your child's doctors rather than trying to weigh every possibility on your own.

Therapies and supports families often explore

Because 22q can touch several areas of development, most families lean on a mix of supports over time. These are not one-time fixes. They are ongoing partnerships that grow and change with your child.

• Early intervention. In the United States, publicly funded early intervention services support development for children under three. A referral is often one of the most valuable first steps a family can take.
• Speech and language therapy. This supports clear speech, understanding, and communication, and is one of the most commonly used therapies in 22q.
• Feeding therapy. For babies and toddlers who struggle with feeding or swallowing, a feeding specialist can be a lifeline for both nutrition and peace at mealtimes.
• Occupational and physical therapy. These build everyday skills, coordination, strength, and independence at your child's own pace.
• School supports. As your child grows, an Individualized Education Program (IEP) or a 504 plan can put learning supports and accommodations in place at school.
• Mental and behavioral health. Psychologists and counselors familiar with 22q can support attention, anxiety, and emotional wellbeing across childhood and beyond.

You do not have to arrange all of this at once, and you do not have to do it alone. A good care team helps you sequence what matters most right now and revisit the plan as your child changes.

Getting an evaluation and building a care team

22q is confirmed with a genetic test that looks for the missing piece of chromosome 22. This is often a chromosomal microarray, or a more targeted test such as FISH or MLPA. Some children are identified before birth through prenatal testing, some as newborns because of a heart difference or low calcium, and others later, when speech delay, learning differences, or frequent infections prompt a closer look. If you suspect 22q, ask your pediatrician for a referral to a geneticist, who can order the right test and explain the results.

Once there is a diagnosis, the next step is building a team. Because so many body systems can be involved, care usually spans several specialties. Many families are seen through a dedicated 22q or multidisciplinary clinic that coordinates much of this under one roof, which can save enormous time and worry. Depending on your child, the team may include:

• A geneticist and genetic counselor, to explain the diagnosis and what it means for your family.
• Cardiology, if there is a heart difference to monitor or treat.
• Immunology, to check and support the immune system.
• Endocrinology, to watch calcium and related hormones.
• Ear, nose, and throat and a palate or speech team, for the mouth, hearing, feeding, and speech.
• Developmental pediatrics and therapists in speech, occupational, physical, and feeding therapy.

Finding your community

One of the most steadying things a family can do is find others who understand. 22q has active foundations, family networks, and online communities where parents share which appointments to ask for, trade practical tips, celebrate milestones, and simply remind one another that they are not alone. Connecting with other 22q families often gives you information and comfort that no single appointment can, because these are people who have walked the exact road ahead of you.

The organizations in the next section are trustworthy places to start. Many host family days, parent groups, mentorship, and private online communities where you can ask the questions that are hard to bring to a clinic. You do not have to join everything at once. Even one connection with another 22q parent can change how a hard week feels. And when your family hits a practical gap that support networks and insurance do not cover, that is exactly the moment organizations like Teagan's Crown are built for.