Every family’s journey to a 22q11.2 deletion syndrome diagnosis is different. Sometimes there's a family history of the condition. Other times it's found during prenatal screening or on a routine ultrasound during pregnancy. Sometimes it goes undiagnosed until a child is struggling in school. You may have just heard of 22q11.2DS for the first time (or as it’s sometimes called, DiGeorge syndrome). But now, you want to know what it means for your child’s life, and how you can ensure they have the best future possible.
At UVA Health Children’s, we’re experienced in treating children with variations involving the 22q11.2 region. As one of the few children’s hospitals in the region with the expertise to treat it, we’re a local referral point. We know the challenges and medical needs that may come along with the diagnosis. And we can help supply the tools and resources to support children born with this condition and their families.
Treating & Diagnosing 22q11.2 Deletion Syndrome
While 22q11.2DS might be suspected based on an individual’s symptoms, we can confirm your child’s diagnosis with genetic testing. Our cytogenetic program is equipped to offer the standard of care diagnostic testing for confirmation of the diagnosis.
What Is 22q11.2 Deletion Syndrome?
22q11.2DS is a chromosome disorder. Chromosomes are structures inside the body’s cells that organize our genes. The first number (22) tells us which chromosome is involved. More specifically, the “q11.2” tells us the exact location on the chromosome a region is deleted. Duplication of the 22q11.2 region results in a different condition, which can share many of the same clinical features as the deletion.
Even though it’s a small chromosome region, the commonly deleted region typically includes about 40 genes. The exact region deleted can be different for each individual. While 85% of patients have a ‘standard’ size deletion, for others the deleted region can be much smaller.
Individuals who have a smaller deletion have the same risks for symptoms, although a smaller deletion can be harder to detect. Historically, the standard test for diagnosis of 22q11.2DS was FISH (fluorescence in situ hybridization) testing. Today; however, the recommended test is a more sensitive test called a chromosomal microarray (CMA).
Other Names for 22q11.2DS
22q11.2DS has been called by many other names through the years. Some of its most common names were:
- DiGeorge Syndrome
- Velocardiofacial syndrome
- Cayler cardiofacial syndrome
- Conotruncal anomaly face syndrome
- Shprintzen syndrome
Eventually, these all became known as 22q11.2 deletion syndrome(22q11.2DS). That’s because all these conditions were caused by the same missing chromosome segment.
Sometimes these historic terms may still be used to reflect symptoms. It is well known that each case of 22q11.2DS can vary greatly. Due to this variability, for a long time, many individuals with the diagnosis appeared to have different conditions.
How We Care for Kids with 22q11.2 Deletion Syndrome
If your child has 22q11.2 deletion syndrome, we’ll monitor for and treat their symptoms. Recognizing symptoms earlier leads to better outcomes. At UVA Health Children’s, we have knowledgeable specialists able to treat a wide range of symptoms.
While there isn’t a cure for 22q11.2DS, treatments are always improving. With early diagnosis and multidisciplinary care and treatment, affected individuals can better meet their potential.
Managing Congenital Heart Defects
Approximately 74% of people born with 22q11.2DS will also be born with a congenital heart defect (CHD). The most common heart conditions are:
- Tetralogy of Fallot
- Double aortic arch
- Ventricular septal defects
- Truncus arteriosus
- Interrupted aortic arch
For these conditions, surgery is often the best option. Our experienced pediatric heart surgeons have significantly better outcomes on complex heart surgeries than the national average.
Mending Hearts
Hearing your child needs heart surgery can be scary. But at UVA Health Children's, we're ranked among the best children's hospitals for heart surgery. That's because we deliver outstanding outcomes and provide support for your whole family.
Quickly Identifying Craniofacial Complications
Many children born with 22q11.2DS have differences affecting their head and face (craniofacial). One of the most well-known craniofacial abnormalities is a cleft palate. These problems must be addressed quickly. Palatal differences can impact a child’s feeding journey.
Other problems, like craniosynostosis, can affect the space your child’s brain has for growth. If your child has 22q11.2DS, we’ll be monitoring closely for this condition. By identifying it quickly, we’ll have more treatment options, including minimally invasive treatments.
- Cleft palate
- Cleft lip
- Velopharyngeal incompetence
- Craniosynostosis
Many children born with craniofacial differences require speech & language therapy. Speech and Language Pathologists can help children with a variety of issues. For our youngest patients, helping them learn to eat can be an important aspect of care.
Early Treatment for Neurodevelopmental Disorders
Many children born with 22q11.2DS are later diagnosed with neurodevelopmental challenges. Neurodevelopment refers to the growth of the brain and nerves. It’s critical in how we develop things like memory, focus, and the ability to perceive and process the world around us.
Neurodevelopmental disorders include things like:
- Autism
- ADHD
- Learning disabilities
- Intellectual disability
- Oppositional defiance
- Conduct disorder
You can learn more about how we treat neurodevelopmental disorders here.
Scoliosis Monitoring and Options
22q11.2DS may increase the chance that your child will have scoliosis. Occasionally, other musculoskeletal differences may be seen such as being born with club feet or having differences in the shape or positioning of vertebrae.
We’ll make sure that we’re checking your child’s spine regularly. Rarely, children with 22q11.2DS need spinal surgery to address their scoliosis. If that’s the case for your child, we’ll discuss options for spinal surgery and recovery.
Hormone & Nutrient Supplementation as Needed
Many children with 22q11.2 deletion syndrome have endocrine system differences. These can include conditions that affect the thyroid, a small gland that makes and releases hormones. Your child’s thyroid affects their metabolism, or how they’re able to turn food into energy.
Some children also suffer from problems resulting from low calcium levels (called hypocalcemia). By monitoring endocrine system function with routine labs, we can identify and treat these conditions quickly. Many endocrine conditions are treated with nutritional supplements. This type of treatment helps your child feel better quickly.
Our endocrinology department will offer follow-up care and treatment for your child.
Strengthening the Immune System
Many children with 22q11.2 deletion syndrome also have a weakened immune system (immunodeficiency). That means that they may have a harder time fighting off and recovering from disease, or be more susceptible to infections. Our immunologists can monitor immune system functioning, by obtaining labs such as a t-cell count. These can help us know how well your child’s immune system is working.
Supporting Your Family
Finding out your child has a chromosomal disorder like 22q11.2DS can be challenging for families. We have resources available at the hospital to help you. These include: