“DiGeorge syndrome is a genetic condition that causes problems in many of the body’s systems. The syndrome is caused by a small deletion on the 22nd chromosome. This means that a small part of the 22nd chromosome is missing.”
DiGeorge syndrome is rare, affecting between 1 in 3,000 to 1 in 6,000 births.
Here is 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.
The defining features of DiGeorge syndrome are called CATCH-22.
- Conotruncal cardiac anomalies
- Abnormal facies
- Thymic hypoplasia
- Cleft palate
- 22q11.2 microdeletion
In general, CATCH-22 describes a variety of conditions, including heart conditions, facial features, and immune system conditions. If doctors see a cluster of signs and symptoms, they may need to test 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.
DiGeorge syndrome has different symptoms from person to person. It is 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
- There are delays with walking or talking.
- Learning disabilities.
- There is attention deficit disorder.
- There is a spectrum disorder of the disease.
Hearing or speech
- Hearing loss is a result of ear infections.
- delayed speech development
- “nasal-sounding” voice
Mouth and feeding
- Cleft lip or cleft palate.
- trouble feeding
- Food is coming up through the nose.
- Irregularities, such as indigestion and constipation.
- Congenital heart disease is a congenital disease.
- “Fallot’s tetralogy.”
- Truncus arteriosus is a arteriosus.
- There is a ventricular septal defect.
- A incomplete arch.
Other signs and symptoms
- low levels of calcium in the blood (hypocalcemia)
- small head (microcephaly)
- muscle weakness (hypotonia)
- Small adenoids or tonsils.
- There are conditions for the kidneys.
- 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
If your child is born with any of the classic features, a doctor may suspect DiGeorge syndrome. A cleft palate, flat cheeks, or a tubular nose are examples of facial characteristics that your child may have. A doctor will likely order a blood test to look for 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.
DiGeorge syndrome is a primary immunodeficiency disease. This means that it weakens the immune system. It makes them vulnerable to infections that will become chronic.
There is no cure for DiGeorge syndrome. Treatments are focused on the conditions a child has and the therapies they need to thrive.
Your child may need that.
- regular health appointments to monitor growth and conduct regular heart, hearing, and blood tests
- The surgery to repair facial conditions impact feeding.
- The surgery to repair heart defects is done.
- physical, occupational, or speech therapies to address developmental delays
“Doctors and therapists may be involved in the treatment of your child. Your team will include specialists to address your child’s needs.”
Doctors or specialists can include but not be limited to:
- neonatologists, who treat babies in the neonatal intensive care unit who have complex medical conditions
- Children are treated by cardiologists who treat heart conditions.
- Geneticists 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 can help strengthen muscles.
- occupational therapists, who can help with learning to achieve everyday tasks
- Speech therapists can help children with delays in language development.
Can DiGeorge syndrome be prevented?
“DiGeorge syndrome doesn’t result from anything you do before or during pregnancy. Sharing genetic information during conception is what causes it.”
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.
There are other people with a diagnosis of DiGeorge syndrome.
A doctor can connect you with groups and other resources. You may be able to get physical, occupational, and speech therapy through government-run early intervention programs.
“Ask your doctor about the programs that can support your child’s development.”