DiGeorge syndrome (22q11.2 deletion syndrome), a disorder caused by a defect in chromosome 22, results in the poor development of several body systems.
Medical problems commonly associated with DiGeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood and behavioral disorders.
The number and severity of problems associated with DiGeorge syndrome vary greatly. Almost everyone with DiGeorge syndrome needs treatment from specialists in a variety of fields.
Before the discovery of the chromosome 22 defect, the disorder was known by several names — DiGeorge syndrome, velocardiofacial syndrome and others. Although the term "22q11.2 deletion syndrome" is frequently used today — and is generally a more accurate description — previous names for the disorder are still used.
Signs and symptoms of DiGeorge syndrome can vary significantly in type and severity. This variation depends 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:
When to see a doctor
If your child has any of the following signs and symptoms, seek immediate medical care:
DiGeorge syndrome is caused by the deletion of a portion of chromosome 22. Each person has two copies of chromosome 22, one inherited from each parent. This chromosome contains an estimated 500 to 800 genes.
If a person has DiGeorge 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 in DiGeorge syndrome is known as 22q11.2. A small number of people with DiGeorge syndrome have a shorter deletion in the same region of chromosome 22.
The deletion of genes from chromosome 22 usually occurs randomly in the father's sperm or in the mother's egg, or it may occur very early during fetal development. Therefore, the deletion is repeated in all or nearly all of the cells in the body as the fetus develops.
The portions of chromosome 22 deleted in DiGeorge 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 DiGeorge syndrome include:
Your body's lymphatic system is part of your immune system, which protects you against infection and disease. The lymphatic system includes your spleen, thymus, lymph nodes and lymph channels, as ...
The parathyroid glands, which lie behind the thyroid, manufacture the parathyroid hormone, which plays a role in regulating your body's level of calcium and phosphorus. ...
If your baby has truncus arteriosus, one very large vessel leads out of the heart, instead of two separate vessels, and there's a hole in the wall between the ventricles (ventricle septal defect). ...
Ventricular septal defect
A ventricular septal defect is an abnormal opening between the heart's lower pumping chambers. It's a common congenital heart defect that may heal on its own or require treatment to repair. ...
Tetralogy of Fallot
Tetralogy of Fallot is a combination of four congenital abnormalities. The four defects are a ventricular septal defect (VSD), pulmonary stenosis, a misplaced aorta and a thickened right ventricular ...
A cleft palate is an opening or split in the roof of the mouth that occurs when the tissue doesn't fuse together during development in the womb. Cleft palate often includes a split or cleft in the ...
Preparing for your appointment
How you learn about your child's condition — if your child has DiGeorge syndrome — depends greatly on the combination of medical problems that are present and their severity. If certain conditions — a severe heart defect, cleft palate or a combination of other factors typical of DiGeorge syndrome — are readily apparent at birth, diagnostic tests will likely begin before your child leaves the hospital.
Your family doctor or pediatrician may suspect the disorder because of a combination of illnesses or disorders that become apparent over time. Other issues may come to the attention of your doctor during regularly scheduled well-baby visits or annual checkups for your child.
Well-baby visits and annual checkups
Be prepared to answer questions that your child's doctor may ask:
Talking to your doctor about DiGeorge syndrome
Tests and diagnosis
A diagnosis of DiGeorge syndrome is based primarily on a laboratory test that can detect the deletion in chromosome 22. Your doctor will likely order such a test if a combination of medical problems or conditions suggests DiGeorge syndrome.
Because certain heart defects are commonly associated with DiGeorge syndrome, the presence of the heart defect itself may prompt your doctor to order a laboratory test for a chromosome 22 deletion.
In some cases, a child may have a combination of conditions that suggest DiGeorge syndrome, but the laboratory 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.
Health care team
Treatments and drugs
There is no cure for DiGeorge syndrome. Treatments can usually correct critical problems, such as a heart defect or low calcium levels. Care for developmental, mental health or behavioral problems are more challenging, and the outcomes are less predictable.
Treatments and therapy for a person with DiGeorge syndrome may include interventions for the following conditions:
Coping and support
Having a child with DiGeorge syndrome is challenging. You must address numerous treatment issues, manage your own expectations and meet the needs of your child. Organizations such as the Velo-Cardio-Facial Syndrome Educational Foundation provide educational materials, support groups and other resources for parents of children with DiGeorge syndrome.
In some cases, DiGeorge syndrome may be passed from an affected parent to a child. If you're concerned about a family history of DiGeorge syndrome, or if you already have a child with DiGeorge syndrome, you may wish to consult a doctor who specializes in genetic disorders (geneticist) or a genetic counselor for help in planning future pregnancies.
Last Updated: 2011-08-09
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