What is DiGeorge syndrome?
DiGeorge syndrome is a genetic disorder that can affect many parts of the body. These problems, usually present at a baby’s birth or in early childhood, include heart defects, an impaired immune system and developmental delays.
Most people with DiGeorge syndrome are missing a small piece of chromosome 22 known as 22q11.2. (The condition is also known as 22q11.2 deletion syndrome.)
DiGeorge syndrome is a primary immunodeficiency disease (PIDD). These genetic disorders cause problems with the immune system.
Problems stemming from DiGeorge syndrome can range from mild to life-threatening.
How common is DiGeorge syndrome?
DiGeorge syndrome isn’t common. Only about 1 out of 4,000 people in the U.S. is diagnosed with the disorder every year.
Symptoms and Causes
What are the symptoms of DiGeorge syndrome?
Symptoms of DiGeorge syndrome can range from minor to severe and vary from person to person.
In some cases people with DiGeorge syndrome have no symptoms at all. Sometimes they have distinctive facial features including hooded eyelids, cheek flatness, a prominent bulbous nasal tip, an underdeveloped chin, or ears that appear prominent with attached lobes. These features will vary from person to person.
Symptoms of DiGeorge syndrome may include:
- Breathing difficulties.
- Developmental disabilities including learning and behavioral problems.
- Heart defects (congenital heart disease).
- Hypocalcemia (lower than normal levels of calcium in the blood), which can cause a seizure disorder.
- Immune system problems including increased infections and pneumonias due to impaired production of T-lymphocyte (white blood cells that fight infection).
- Kidney abnormalities.
- Endocrine (hormonal) system problems.
- Speech issues including hypernasal speech.
- Cleft lip and palate (opening in the lip or roof of the mouth).
What causes DiGeorge syndrome?
Tissue that forms abnormally during a baby’s development causes DiGeorge syndrome. In most cases, this congenital (present at birth) disability occurs when a small piece of chromosome 22 is missing.
The affected part of chromosome 22 includes dozens of genes related to the development of several systems in the body. When part of this chromosome is missing, related organs and systems don’t develop normally.
In a small number of cases, DiGeorge syndrome is hereditary (passed from a parent to a child). Most of the time the gene mutation (change) that causes DiGeorge syndrome happens randomly.
Diagnosis and Tests
How is DiGeorge syndrome diagnosed?
Healthcare providers can often see signs and symptoms of DiGeorge syndrome at birth. They may request special tests if they note issues such as seizures, unique facial features or blood tests that show low calcium levels.
Your provider will use your family medical history and these tests to diagnose DiGeorge syndrome:
- Genetic testing: A sample of blood or tissue is studied to detect faulty genes.
- Imaging tests: X-ray and CT scan tests provide images of the inside of the body. The images help identify defects in the heart and other organs.
- Physical exam: Providers examine the face, ears, eyes and joints for abnormalities.
Management and Treatment
How is DiGeorge syndrome treated?
Treatment for DiGeorge syndrome depends on a person’s symptoms. Healthcare providers treat the syndrome by managing its effects.
Types of therapies to manage symptoms and correct features caused by the disorder may include:
- Antibiotic medications to treat infections.
- Calcium supplementation to treat low calcium levels.
- Ear tubes or hearing aids to improve hearing.
- Occupational therapy to improve developmental and behavioral issues.
- Physical therapy to improve mobility and movement.
- Replacement of missing hormones such as parathyroid hormone, growth hormone or thyroid hormone.
- Surgery to repair a heart defect, cleft palate or nasal speech.
What are the complications associated with DiGeorge syndrome?
Children with DiGeorge syndrome have an increased risk of having autism spectrum disorder or attention-deficit hyperactivity disorder (ADHD). As they get older, they have higher risk of developing mental illnesses including depression, bipolar disorder and schizophrenia.
Other complications of DiGeorge syndrome may include:
- Autoimmune disorders (the body’s immune system harms its own cells).
- Feeding problems due to cleft lip or palate.
- Impaired hearing and vision.
- Learning disabilities due to hearing and vision problems.
How can you prevent DiGeorge syndrome?
You can’t prevent DiGeorge syndrome. People with a family history of the disorder who want to have a child should talk to a doctor specializing in genetics. The genetic counselor can help you make decisions about planning a family.
If you are pregnant and have a family member with DiGeorge syndrome, ask your provider about prenatal and newborn screenings for your baby. These tests can reveal signs of the disorder such as heart and kidney abnormalities. Spotting issues early can enable you and your provider to prepare for your baby’s care after birth.
Who is at risk of developing DiGeorge syndrome?
In a small number of cases, people who have a parent with DiGeorge syndrome have a higher risk of developing the disorder. In most cases, the causes of the syndrome are simply unknown.
Outlook / Prognosis
What is the prognosis (outlook) for people with DiGeorge syndrome?
The outlook for people with DiGeorge syndrome varies depending on the severity of their congenital disabilities. Some of these conditions can be life-threatening. But with ongoing treatment and support, many people with DiGeorge syndrome live active, fulfilling lives.
When should I see a healthcare provider about DiGeorge syndrome?
In most cases, DiGeorge syndrome is diagnosed when a baby is born or during early checkups. Contact your provider if your child shows signs or symptoms of DiGeorge syndrome.
What questions should I ask my doctor?
If your child has DiGeorge syndrome, you may want to ask your doctor:
- What is the outlook for this syndrome?
- How will it affect my child’s daily life?
- What does treatment involve?
- What complications should I look out for?
- Is there a support group where I can find other families dealing with this condition?
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