DiGeorge syndrome, also called 22q11 deletion, is a rare primary immunodeficiency disease in which the thymus in children is absent or underdeveloped (athymia), resulting in low levels of a special type of white blood cell called a T cell that fights infections. Absence of a thymus makes these children extremely susceptible to infections, particularly viral infections.
The severity of the condition varies widely and every patient is affected differently. Some children may be severely ill while others may have no symptoms and not even know they have the condition.
In about 1-2% of cases, patients completely lack T cells, and the condition is called complete DiGeorge syndrome. Without treatment, life expectancy for some children with complete DiGeorge syndrome is two or three years. However, most children with DiGeorge syndrome that is not “complete” survive to adulthood.
Many people with DiGeorge syndrome who reach adulthood will have a relatively normal life span, but continuing health problems may lower life expectancy.
What Are Symptoms of DiGeorge Syndrome?
Symptoms of DiGeorge syndrome include:
- Higher risk of viral, fungal and bacterial infections
- Ear infections, oral thrush, and respiratory infections are common because of the weakened immune system
- Problems with learning and behavior
- Speech and hearing problems
- Frequent ear infections that can lead to temporary hearing loss
- A nasal-sounding voice
- Delays learning to talk
- Mouth and feeding problems
- Cleft lip or palate
- Difficulty eating
- Noisy breathing
- Heart problems
- Congenital heart disease
- Hormonal problems
- Bone, muscle, and joint problems
- Short stature
- Mental health problems
What Causes DiGeorge Syndrome?
DiGeorge syndrome is usually caused by a problem called a 22q11 deletion, in which a small piece of genetic material is missing from a person's DNA.
Some infants who have DiGeorge syndrome are born to mothers who are diabetic, but it is not currently known whether the mother’s diabetes contributes to DiGeorge syndrome in these patients.
A small percentage of patients who have complete DiGeorge syndrome do not have an identifiable genetic cause for the disorder, and the underlying cause is unknown.
How Is DiGeorge Syndrome Diagnosed?
DiGeorge syndrome is diagnosed with a patient history, a family history, and a physical examination.
Some newborns may be diagnosed with genetic screening for low levels of T cells, which can help diagnose babies with DiGeorge syndrome.
What Is the Treatment for DiGeorge Syndrome?
Treatment for DiGeorge syndrome varies depending on the symptoms and organs that are affected, and may include:
- Antibiotics and antiviral medications to treat infections
- Surgery to repair congenital heart defects
- Surgery to repair a cleft palate
- Supplementation with calcium to treat hypoparathyroidism
- Infants with laryngomalacia or aspiration may require a tracheostomy
- Dietary changes for feeding problems
- Some children with eating problems may require a gastrostomy tube for feeding
- Extra support for learning disabilities
- Speech therapy
- Physical therapy for problems with strength and movement
- Shoe inserts (orthotics) for leg pain
- Investigational therapies
- Cultured thymus tissue transplants
- Hematopoietic stem cell transplantation (HSCT)
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