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
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.
Symptoms are related to complications caused by 22q11.2 deletion. These include:
- Specific facial features, such as small ears, head, eyes, and jaw, hooded eyelids and elongated face
- Heart defects
- Cleft palate
- Learning problems
- Immune system deficiencies, which can lead to frequent or recurrent infections and trouble with live vaccines
- Hypocalcemia due to hypoparathyroidism
- Swallowing and feeding difficulties
- Growth and developmental delays
- Hearing loss
- Behavioral problems, such as attention deficit hyperactivity disorder or autism
- Feeding problems and nutritional deficiencies
- Psychiatric disorders, such as generalized anxiety, phobias, schizophrenia, depression, and bipolar disorder.
- Autoimmune conditions, such as rheumatoid arthritis, hypothyroidism, and Graves disease
- Occasional abnormalities include structural brain defects, scoliosis, abnormalities in the bones of the neck or upper back, umbilical or inguinal hernias, kidney abnormalities, anogenital abnormalities, eye abnormalities, and short height
It is important to note that symptoms vary widely among children. In most cases, children do not have every health problem.
Your child's doctor may suspect 22q11.2 deletion syndrome if certain features or health issues are present.
Tests may include:
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 Defect Repairs
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.
Cleft Palate Repair
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.
Immune System Support
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.
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.
- Reviewer: EBSCO Medical Review Board Michael Woods, MD FAAP
- Review Date: 09/2017 -
- Update Date: 09/01/2017 -