DiGeorge syndrome (22q11.2 deletion syndrome) is a disorder caused by a defect in chromosome 22, resulting in poor development of several body systems.
DiGeorge syndrome, more accurately known by a broader term — 22q11.2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems.
The term 22q11.2 deletion syndrome covers terms once thought to be separate conditions, including DiGeorge syndrome, velocardiofacial syndrome and other disorders that have the same genetic cause, though features may vary slightly.
Medical problems commonly associated with 22q11.2 deletion syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems.
The number and severity of symptoms associated with 22q11.2 deletion syndrome vary. However, almost everyone with this syndrome needs treatment from specialists in a variety of fields.
Signs and symptoms of DiGeorge syndrome (22q11.2 deletion syndrome) can vary in type and severity, depending on what body systems are affected and how severe the defects are. Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood.
Signs and symptoms may include some combination of the following:
Other conditions may cause signs and symptoms similar to 22q11.2 deletion syndrome. So it's important to get an accurate and prompt diagnosis if your child shows any signs or symptoms listed above.
Doctors may suspect 22q11.2 deletion syndrome:
Each person has two copies of chromosome 22, one inherited from each parent. If a person has DiGeorge syndrome (22q11.2 deletion syndrome), one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes. Many of these genes haven't been clearly identified and aren't well-understood. The region of chromosome 22 that's deleted is known as 22q11.2.
The deletion of genes from chromosome 22 usually occurs as a random event in the father's sperm or in the mother's egg, or it may occur early during fetal development. Rarely, the deletion is an inherited condition passed to a child from a parent who also has deletions in chromosome 22 but may or may not have symptoms.
The portions of chromosome 22 deleted in DiGeorge syndrome (22q11.2 deletion syndrome) play a role in the development of a number of body systems. As a result, the disorder can cause several errors during fetal development. Common problems that occur with 22q11.2 deletion syndrome include:
A ventricular septal defect (VSD) is a hole in the heart that's present at birth (congenital heart defect). The hole is between the lower heart chambers (right and left ventricles). It allows oxygen-rich blood to move back into the lungs instead of being pumped to the rest of the body.
In some cases, DiGeorge syndrome (22q11.2 deletion syndrome) may be passed from an affected parent to a child. If you're concerned about a family history of 22q11.2 deletion syndrome, or if you already have a child with the syndrome, you may want to consult a doctor who specializes in genetic disorders (geneticist) or a genetic counselor for help in planning future pregnancies.
A diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome) is based primarily on a lab test that can detect the deletion in chromosome 22. Your doctor will likely order this test if your child has:
In some cases, a child may have a combination of conditions that suggest 22q11.2 deletion syndrome, but the lab test doesn't indicate a deletion in chromosome 22. Although these cases present a diagnostic challenge, the coordination of care to address all of the medical, developmental or behavioral problems will likely be similar.
Although there is no cure for DiGeorge syndrome (22q11.2 deletion syndrome), treatments can usually correct critical problems, such as a heart defect or cleft palate. Other health issues and developmental, mental health or behavioral problems can be addressed or monitored as needed.
Treatments and therapy for 22q11.2 deletion syndrome may include interventions for:
Because 22q11.2 deletion syndrome can result in so many problems, several specialists will likely be involved in diagnosing specific conditions, recommending treatments and providing care. This team will evolve as your child's needs change. Specialists on your care team may include these professionals and others, as needed:
Having a child with DiGeorge syndrome (22q11.2 deletion syndrome) is challenging. You must deal with numerous treatment issues, manage your own expectations and meet the needs of your child. Ask your health care team about organizations that provide educational materials, support groups and other resources for parents of children with 22q11.2 deletion syndrome.
Your doctor may suspect DiGeorge syndrome (22q11.2 deletion syndrome) at birth, in which case diagnostic tests and treatment will likely begin before your child leaves the hospital.
Your child's health care provider will look for developmental problems at regular checkups and give you the opportunity to discuss any concerns with your doctor. It's important to take your child to all regularly scheduled well-baby visits and annual appointments.
Here's some information to help you prepare for your appointment.
If your family doctor or pediatrician believes that your child shows signs of 22q11.2 deletion syndrome, basic question to ask include:
Be prepared to answer questions the doctor may ask, such as: