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Definition

What is DiGeorge syndrome?

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.

How common is DiGeorge syndrome?

Experts estimate that DiGeorge syndrome affects 1 in 4,000 people. However, due to variability in presenting features, many people may be underdiagnosed or misdiagnosed. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of DiGeorge syndrome?

The common symptoms of DiGeorge syndrome are:

  • Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect
  • Frequent infections
  • Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip
  • A gap in the roof of the mouth (cleft palate) or other problems with the palate
  • Delayed growth
  • Difficulty feeding, failure to gain weight or gastrointestinal problems
  • Breathing problems
  • Poor muscle tone
  • Delayed development, such as delays in rolling over, sitting up or other infant milestones
  • Delayed speech development or nasal-sounding speech
  • Learning delays or disabilities
  • Behavior problems

 

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes DiGeorge syndrome?

DiGeorge syndrome is caused by a problem called 22q11 deletion. This is where a small piece of genetic material is missing from a person’s DNA.

In about 9 in 10 (90%) cases, the bit of DNA was missing from the egg or sperm that led to the pregnancy. This can happen by chance when sperm and eggs are made. It isn’t a result of anything you did before or during the pregnancy.

In these cases, there’s usually no family history of DiGeorge syndrome and the risk of it happening again to other children is very small.

In around 1 in 10 (10%) cases, the 22q11 deletion is passed on to a child by a parent who has DiGeorge syndrome, although they may not realise they have it if it’s mild.

Risk factors

What increases my risk for DiGeorge syndrome?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is DiGeorge syndrome diagnosed?

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:

  • A combination of medical problems or conditions suggesting 22q11.2 deletion syndrome
  • A heart defect, because certain heart defects are commonly associated with 22q11.2 deletion syndrome

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.

How is DiGeorge syndrome treated?

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:

  • Hypoparathyroidism can usually be managed with calcium supplements and vitamin D supplements.
  • Heart defects. Most heart defects associated with 22q11.2 deletion syndrome require surgery soon after birth to repair the heart and improve the supply of oxygen-rich blood.
  • Limited thymus gland function. If your child has some thymic function, infections may be frequent, but not necessarily severe. These infections — usually colds and ear infections — are generally treated as they would be in any child. Most children with limited thymic function follow the normal schedule of vaccines. For most children with moderate thymus impairment, immune system function improves with age.
  • Severe thymus dysfunction. If the impairment of the thymus is severe or there’s no thymus, your child is at risk of a number of severe infections. Treatment requires a transplant of thymus tissue, specialized cells from bone marrow or specialized disease-fighting blood cells.
  • Cleft palate. A cleft palate or other abnormalities of the palate and lip can usually be surgically repaired.
  • Overall development. Your child will likely benefit from a range of therapies, including speech therapy, occupational therapy and developmental therapy. In the United States, early intervention programs providing these types of therapy are usually available through a state or county health department.
  • Mental health care. Treatment may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, depression, or other mental health or behavioral disorders.
  • Management of other conditions. These may include addressing feeding and growth issues, hearing or vision problems, and other medical conditions.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage DiGeorge syndrome?

The following lifestyles and home remedies might help you cope with DiGeorge syndrome:

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.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: August 11, 2017 | Last Modified: August 11, 2017

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