DiGeorge syndrome is a chromosomal disorder that typically affects the 22nd chromosome. This condition can affect many organ systems and cause various medical issues, ranging from a heart defect to behavioral problems and a cleft palate.
The condition is also known as 22q11.2 deletion syndrome. Around
This deletion is now known to be responsible for several previously named syndromes, which now all fall under the name 22q11.2 deletion syndrome.
Other names include velocardiofacial syndrome, conotruncal anomaly face syndrome, Shprintzen syndrome, and CATCH22.
Doctors and researchers think DiGeorge syndrome affects around
Fast facts on DiGeorge syndrome
Here are some key points about DiGeorge syndrome.
- DiGeorge syndrome is typically referred to as 22q11.2 deletion syndrome, as this most accurately reflects its origins
- Gene deletion from the 22nd chromosome usually occurs randomly, and the condition is rarely inherited.
- The symptoms depend on the affected organ system.
- DiGeorge syndrome is often diagnosed with a specific blood test.
- Treatment will depend on the symptoms and the affected systems.
DiGeorge syndrome results from the deletion of the 22q11.2 segment in one of the two copies of chromosome 22. It affects approximately 30 to 40 genes.
Many of these genes are not yet fully understood.
The syndrome usually starts as a random event de novo, or
DiGeorge syndrome is not typically inherited, and there is rarely a family history of the condition.
However, around 10% of people with the syndrome have inherited the deletion from a parent.
The Immune Deficiency Foundation (IDF) states that the syndrome can involve a wide range of signs and symptoms. According to the National Health Service (NHS) in the United Kingdom, if a child has DiGeorge syndrome, parents or caregivers may notice:
- a cleft lip or palate
- delays in learning to walk or talk and other developmental markers
- mouth and feeding problems
- speech, hearing, or vision problems
- shorter stature than typical
- specific facial features, including underdeveloped chin, set-back ears, and hooded eyelids
Other signs include:
- bone, spine, joint, or muscle problems
- frequent infections
- heart issues
- mental health concerns, including anxiety or schizophrenia
- hypoparathyroidism, which causes abnormal calcium and phosphorus metabolism
- tremors or seizures
Due to the significant variability of DiGeorge syndrome, the type and severity of symptoms are typically determined by the organ system affected.
According to the Pediatric Endocrine Society (PES), DiGeorge syndrome can become evident at birth, in infancy, or during early childhood.
Doctors typically diagnose DiGeorge syndrome with a blood test called a FISH analysis (Fluorescence In Situ Hybridization).
A healthcare professional is likely to request a FISH analysis if a child has symptoms that may indicate DiGeorge syndrome or if there are signs of a heart defect. DiGeorge syndrome has strong associations with certain types of heart problems.
Treatment of DiGeorge syndrome depends on the organ systems involved. It can involve a wide range of health professionals.
These include:
- pediatricians
- cardiologists
- geneticists
- immunologists
- infectious disease specialists
- endocrinologists
- surgeons
- therapists (occupational, physical, speech, developmental, and mental)
DiGeorge syndrome causes various conditions that require different types of treatment.
Hypoparathyroidism
Treatment for hypoparathyroidism includes supplementation with vitamin D, calcium, and parathyroid hormone.
Limited thymus gland function
If the thymus gland is not functioning correctly, it affects the immune system’s ability to fight infection, leading to frequent mild or moderate infections. Supplement recommendations and vaccine scheduling is usually the same as for children without the condition. The immune function usually becomes stronger as the child gets older.
Severe thymus dysfunction
This poses a risk of severe infection and may require surgery. Thymus tissue transplantation, bone marrow transplant, stem cell transplant, or transplant of disease-fighting blood cells may be necessary.
Other treatments
Other treatments to address specific symptoms include:
- Cleft palate: Surgical repair is usually necessary.
- Heart defects: Surgical repair may be needed.
- Supportive services: Physiotherapy, educational, and language support are examples of the types of help available.
- Mental health care: Some mental health disorders may require treatment depending on the diagnosis.
Currently, there is no cure for DiGeorge syndrome. It is a lifelong condition. The outlook depends on the organ system affected and the severity of the condition.
However, according to the NHS, some of the issues tend to improve with age. Most people can expect to live as long as people without the condition, but they may continue to experience ongoing health issues. Adults with the condition can often live independently.
As with most medical conditions, early diagnosis and treatment are essential. It is also important to attend all medical appointments, as ongoing monitoring can help an individual maintain good health.
Anyone concerned about the risk of DiGeorge syndrome should speak with their doctor or another healthcare professional.