DiGeorge syndrome, also called chromosome 22q11.2 deletion syndrome, is a genetic condition that results in developmental problems in many of the body’s systems. A small deletion on chromosome 22 causes the syndrome. This means that a small portion of chromosome 22 is missing.
DiGeorge syndrome is rare, affecting between 1 in 3,000 to 1 in 6,000 births.
Here’s what you need to know about DiGeorge syndrome, how it may affect your child, and what the outlook is as your child grows into adulthood.
Doctors may refer to the defining features of DiGeorge syndrome as CATCH-22, which is an acronym that stands for:
- Conotruncal cardiac anomalies
- Abnormal facies
- Thymic hypoplasia
- Cleft palate
- 22q11.2 microdeletion
In general, CATCH-22 describes distinct heart conditions, facial features, and immune system conditions, as well as a distinct blood makeup. If doctors observe a cluster of these signs and symptoms, it may prompt further testing for the syndrome.
The deletion of a specific part of chromosome 22 called q11.2 causes DiGeorge syndrome. That missing piece of DNA usually contains about 30 to 40 genes. The missing genes can cause various physical and neurodevelopmental conditions.
In rare cases, parents can pass along this deletion to their children. What’s more likely (in 90 percent of cases) is that the deletion happens at random when the sperm meets the egg. This means that the genetic material may have been missing from either the sperm or the egg during fertilization.
Symptoms vary from person to person with DiGeorge syndrome. It’s a unique experience according to how the missing genes affect each person.
Because of this variation, the list of potential symptoms is very long. It’s important to know that most children won’t experience all symptoms.
Functions affected by DiGeorge syndrome may include:
Learning or behavior
- developmental delays with walking or talking
- learning disabilities
- attention deficit hyperactivity disorder
- autism spectrum disorder
Hearing or speech
- hearing loss (temporary) due to repeat ear infections
- delayed speech development
- “nasal-sounding” voice
Mouth and feeding
- cleft palate or cleft lip
- trouble feeding
- food coming up through the nose
- reflux, constipation
- congenital heart disease
- tetralogy of Fallot
- truncus arteriosus
- ventricular septal defect
- incomplete aortic arch
Other signs and symptoms
- low levels of calcium in the blood (hypocalcemia)
- small head (microcephaly)
- muscle weakness (hypotonia)
- small adenoids or tonsils
- kidney conditions
- breathing conditions
- undescended testes (cryptorchidism) in people assigned male at birth
- more frequent infections (ear infections, chest infections, etc.) due to a weakened immune system
- problems with the bones, muscles, or joints, such as scoliosis or rheumatoid arthritis
- shorter than average height
- mental health conditions, such as anxiety or schizophrenia
A doctor may suspect DiGeorge syndrome soon after your child is born if they spot any of its classic features. For example, your child may be born with a cleft palate or other facial characteristics, such as a recessed jaw, flat cheeks, or a tubular nose. A doctor will likely order a blood test to look for the microdeletion.
In more mild cases, there may not be any clear symptoms or signs. DiGeorge syndrome can also be diagnosed later in life through genetic blood tests. A doctor may test someone if they develop certain health conditions or a combination of conditions related to the syndrome, such as arrhythmia and hypocalcemia.
You may also discover your child has DiGeorge syndrome through testing during pregnancy. Amniocentesis or chorionic villus sampling may indicate that your child has a genetic issue. But this testing won’t enable predicting how much your child may be affected.
Doctors classify DiGeorge syndrome as a primary immunodeficiency disease. This means that it weakens a person’s immune system. It makes them susceptible to infections that may become chronic.
There’s no cure for DiGeorge syndrome. Treatment is focused on the associated conditions a child has and supplemental therapies to help them thrive.
For example, your child may need:
- regular health appointments to monitor growth and conduct regular heart, hearing, and blood tests
- surgery to repair facial conditions that impact feeding
- surgery to repair heart defects
- physical, occupational, or speech therapies to address developmental delays
Various doctors and therapists may be involved with treating your child with DiGeorge syndrome. Your team will include specialists to address your child’s specific physical or developmental needs.
Doctors or specialists may include but aren’t limited to:
- neonatologists, who treat babies in the neonatal intensive care unit who have complex medical conditions
- pediatric cardiologists, who treat heart conditions in children
- geneticists, who evaluate genetic conditions
- pediatric ophthalmologists who treat eye conditions in children
- otolaryngologists (ear, nose, and throat specialists)
- plastic surgeons who treat cleft lip, cleft palate, and other facial conditions
- pediatric psychiatrists, who treat mental health conditions in children
- immunologists, who specialize in the immune system
- endocrinologists, who specialize in hormone conditions
- physical therapists, who can help strengthen muscles and with meeting developmental milestones
- occupational therapists, who can help with learning to achieve everyday tasks
- speech therapists, who can help children navigate delays in language development
Can DiGeorge syndrome be prevented?
DiGeorge syndrome doesn’t result from anything you do before or during pregnancy. You can’t prevent it because it results from the sharing of genetic information during conception.
Does DiGeorge syndrome run in families?
Some 90 percent of cases happen spontaneously when the sperm meets the egg. That said, it can run in families, but it’s less common. If you have a family history of DiGeorge syndrome, you may consider genetic counseling before getting pregnant to discuss your risk.
How likely is it that my next child will also have DiGeorge syndrome?
If you have one child with DiGeorge syndrome, it doesn’t mean that your next child will have it or even be at high risk. Parents who don’t have DiGeorge syndrome have only a small risk (1 in 100) of having another child with the syndrome.
A parent with DiGeorge syndrome has a 50 percent chance of passing along the deletion to their child with each pregnancy.
Each child’s outlook is unique because DiGeorge syndrome affects children in different ways. Most people with the syndrome live well into adulthood with the right treatment and support. And many adults are able to live on their own.
As children grow and adults age, certain aspects of the syndrome, such as speech and heart conditions, may have less impact. Ongoing care and therapy can help with the conditions that do continue to have impact, such mental health conditions or learning disabilities.
The overall life expectancy depends on several factors and can be shorter depending on the severity of different health conditions. Again, ongoing care can help with finding new conditions right away before they worsen.
If your child has a diagnosis of DiGeorge syndrome, you’re not alone.
A doctor may be able to connect you with groups and other resources for support. You may also have access to physical, occupational, and speech therapy as part of government-run early intervention programs.
Ask a doctor about how these programs can support your child’s development as they grow.