Definition | Causes | Risk Factors | Symptoms | Diagnosis | Treatment | Prevention

Definition

22q11.2 deletion syndrome is a rare genetic disease that presents at birth. The defect is associated with groups of syndromes that were thought to be separate disorders. The most common types are DiGeorge syndrome and velocardiofacial syndrome

Causes

22q11.2 deletion syndrome is caused missing genes on a specific chromosome. The lost genetic material results in a spectrum of different complications that can affect almost any part of the body. Abnormalities of the heart, immune system, facial features, and learning and development are common.

Risk Factors

22q11.2 deletion may run in some families, but most have no family connection.

Symptoms

Symptoms are related to complications caused by 22q11.2 deletion. These include:

It is important to note that symptoms vary widely among children. In most cases, children do not have every health problem.

Organs of the Immune System

immune system
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Diagnosis

Your child's doctor may suspect 22q11.2 deletion syndrome if certain features or health issues are present.

Tests may include:

Treatment

The goal of treatment is to manage complications. There are a variety of treatments available that will be tailored to your child's needs. You will be referred the specialist that is expert in treating any of these specific problem.

In general, the earlier treatment starts, the better the outcomes. Common treatments include:

Heart defects can impair growth and development.

Certain heart defects may need to be surgically repaired. This repair is often done in the first year of life. Other heart defects will need to be monitored throughout your child's life.

A surgery or series of surgeries may be needed to repair a cleft palate. Your child may also work with a speech therapist. The therapist will help your child with feedings and speech delays.

Some immune system problems can be severe. They may require immediate treatments.

If the thymus is missing, a thymic tissue transplant may be done. A bone marrow transplant may also help boost the immune system. However, there are certain risks for these procedures. The risks will be weighed against the benefits.

Other steps involve monitoring the immune system and treating infections.

Missing parathyroid glands can affect the level of calcium in the body and blood. Calcium and vitamin D supplements can help to make up for low parathyroid levels. A low phosphorous diet will also help. Talk to your doctor or a dietitian about changes to your child's diet.

A variety of early intervention therapies may help your child including:

  • Speech therapy—To help with feeding problems and speech development.
  • Occupational therapy—To help with everyday skills and personal care.
  • Physical therapy—To address physical challenges.
  • Audiology—To check for and treat hearing loss
  • Developmental programs—To help your child reach appropriate developmental milestones.
  • Psychiatry—To address psychological challenges that may arise. Some may not develop until later in life.

Prevention

There are no current guidelines to prevent 22q11.2 deletion syndrome. If it runs in your family, you may consider genetic screening tests. If you are pregnant, talk to your doctor about prenatal care and screening tests.