22q11 deletion syndrome (DiGeorge syndrome)
22q deletion syndrome is a genetic condition present from birth. It happens when a small piece of a person’s genetic material (known as chromosome 22) is missing. The condition can affect many parts of the body, leading to a wide range of health and developmental differences.
Symptoms of 22q deletion syndrome
22q deletion syndrome is sometimes referred to as DiGeorge syndrome or velocardiofacial syndrome. These names refer to the same underlying chromosome change.
Symptoms vary widely and not everyone will have the same features. Some people have few or mild issues, while others have more complex needs.
They may appear at birth, in early childhood, or later in life.
Common physical and medical features
Common physical and medical features of 22q deletion syndrome include:
- heart problems present from birth congenital heart disease
- distinct facial features, such as low‑set ears, wide‑set eyes, small chin, long face or hooded eyelids.
- feeding issues, including a cleft lip and palate, problems feeding and sometimes bringing food back up through the nose.
- immune system weakness, causing frequent infections such as ear infections, oral thrush and chest infection
- low calcium levels due to underactive parathyroid glands (hypoparathyroidism) which can lead to problems such as shaking and seizures (fits)
- kidney problems
- hearing loss or recurrent ear infections
- eye problems, including vision difficulties
Growth, development and learning
Issues with growth, development and learning include:
- delays in learning to speak, walk or develop motor skills.
- short stature – children and adults may be shorter than average
- learning difficulties or developmental delay
- speech and language differences including having a "nasal-sounding" voice
Behavioural and mental health
There is also:
- a chance of developing ADHD, autism and anxiety
- an increased risk of conditions such as bipolar disorder or schizophrenia in adulthood
Causes of 22q deletion syndrome
22q deletion syndrome occurs when a small section of chromosome 22 is missing.
In about 90 per cent of cases, this happens by chance when sperm and eggs are made. It is not a result of anything you did before or during the pregnancy.
In 10 per cent, it is inherited from a parent with a mild or unrecognised form of the condition.
If neither parent has 22q deletion syndrome, the risk of having another child with it is thought to be less than one in 100.
If one parent has the condition, they have a 50 per cent chance of passing it on to their child. This applies to each pregnancy.
Screening and testing for 22q deletion syndrome
The condition can be diagnosed:
- during pregnancy using tests such as chorionic villus sampling (CVS) or amniocentesis
- after birth with a blood test that checks for the missing genetic material
Diagnosis may take time because symptoms vary and may be mild.
Treatment and support
There is no cure for 22q deletion syndrome, but treatment focuses on managing symptoms and maintaining quality of life.
As the condition affects many organs, people with 22q deletion syndrome are often supported by a multidisciplinary medical team throughout their lives.
Children and adults may need support from different specialists, such as:
- heart specialists (cardiologists)
- physiotherapy
- immunology and infectious disease teams
- speech and language therapy
- hearing, vision and ENT (ears, nose and throat) specialists
- endocrinology for calcium or hormone issues
- developmental, learning and mental health support
Everyone with 22q deletion syndrome is affected differently and it's difficult to predict how severe the condition will be.
With the right care, many people with 22q deletion syndrome live healthy and fulfilling lives. Because it can affect multiple body systems, ongoing monitoring is often important.
Families may benefit from:
- regular health checks across multiple specialties
- support for speech, learning and emotional wellbeing
- advice on feeding, growth and development
- peer support groups for families and individuals
Early intervention can make a significant difference to development and long-term‑ health.
Where to get help
Health services
The Belfast Health and Social Trust Clinical Genetics Service run a monthly dedicated 22q clinic in the Belfast City Hospital.
Speak to your GP, paediatrician or specialist clinic if you have concerns about 22q deletion syndrome, need diagnostic testing, or require ongoing care and support.
Support organisations
22qNorthern Ireland raises awareness about 22q and supports individuals and families affected by the syndrome.
Northern Ireland Rare Disease Partnership (NIRDP) offers support for individuals, family members, carers, friends and health care professionals living or working with a rare condition in Northern Ireland.
Max Appeal – UK is a charity supporting families affected by 22q.
Genetic Alliance UK is an alliance of over 220 organisations, charities and support groups working together to improve the lives of everyone in the UK living with genetic, rare and undiagnosed conditions.
International 22q11.2 Foundation is a nonprofit organisation dedicated to supporting the needs of families and individuals affected by chromosome 22q11.2 differences by promoting awareness, clinical care, research, and solidarity with related associations around the globe.
Unique is an international charity supporting, informing and networking with anyone affected by a rare chromosome or gene disorder and with any interested professionals.
Online resources
RARDTAC – Queen's University Belfast’s rare disease focus group raises awareness and supports rare diseases throughout all communities.
Orphanet gathers and improves knowledge on rare diseases to improve the diagnosis, care and treatment of patients with rare diseases.
Caring with Rare is a resource for rare disease carers.