Definition

22q11.2 deletion syndrome is a disease seen at birth that affects many parts of the body. It is rare.

It is linked to groups of syndromes. The most common types are DiGeorge syndrome and velocardiofacial syndrome.

Causes

22q11.2 deletion syndrome is caused by missing genes in chromosome 22q11.2.

Risk Factors

The risk of this problem is higher in babies who have other family members who have it.

Symptoms

Problems differ among children. The missing genes can result in problems in almost any part of the body. A child may have:

• Bluish skin due to problems with blood flow through the heart
• Frequent infections
• Abnormalities in body structures, such as facial features and the mouth
• Learning problems
• Slowed growth
• Swallowing and feeding problems
• Problems hearing
• Behavioral and mental health problems
• Arthritis and other autoimmune problems

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Diagnosis

The doctor may suspect 22q11.2 deletion syndrome at birth in a child that has certain features or health issues.

The doctor may ask about your child's symptoms and health history. A physical exam will be done.

A genetic test can be done to confirm the diagnosis. Other tests may be:

• Blood tests
• MRI scan
• X-rays
• Ultrasound
• Echocardiogram

Treatment

There is no cure. The goal is to manage health problems. How it is done depends on the problems that a child has. Some choices are:

• Increasing calcium in the blood with supplements
• Early intervention therapies, such as speech, occupational, and physical therapy
• Surgery to:
  • Repair heart defects
  • Repair a cleft palate
  • Transplant thymic tissue to improve immune system function

Prevention

There are no guidelines to prevent this health problem.