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22q11.2 Deletion Syndrome information card
🧬 Genetic Condition

22q11.2 Deletion Syndrome

A genetic condition caused by a small deletion on chromosome 22, affecting the heart, immune system, learning, and mental health.

🧸 Early Years 🏫 School Age 🧑 Teens & Adults ♾️ Lifelong
Information quality and medical scope This page is general information, not a diagnosis or individual medical advice. Symptoms, diagnostic criteria and treatment evidence can change over time, and people can present very differently. Database record last updated: 25 August 2026. See how Awareverse reviews condition information.

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📖 Overview

22q11.2 Deletion Syndrome, also known as DiGeorge Syndrome or Velocardiofacial Syndrome (VCFS), is caused by a small deletion on chromosome 22. It is one of the most common chromosomal deletion syndromes, occurring in approximately 1 in 2,000-4,000 births. Around 90% of cases arise as new mutations; 10% are inherited.

The condition has an enormous range of possible features. Congenital heart disease, immune-system differences and palatal or velopharyngeal problems are common, but the combination and severity vary widely. Some immune difficulties improve with age while others require ongoing specialist follow-up.

Learning and neurodevelopmental differences are common and may affect processing speed, attention, mathematics, language and executive skills. Intellectual ability ranges widely, so verbal strengths or weaknesses should not be used to infer overall ability.

Mental-health conditions are an important part of lifelong care. Schizophrenia is reported in roughly a quarter of adults with 22q11.2 deletion syndrome, making the deletion one of the strongest known molecular genetic risk factors for schizophrenia. Anxiety, depression, attention difficulties and autism are also more common than in the general population.

Mental health monitoring throughout life, particularly into early adulthood when psychosis risk peaks, is an important part of healthcare for people with 22q11.2 DS.

🔍 Key Characteristics

Deletion on chromosome 22
Heart defects common 75 percent
Immune deficiencies
Cleft palate or feeding issues
Learning disabilities
Speech and language delays
Increased mental health risks schizophrenia anxiety
Over 180 possible features highly variable

🌅 What Day to Day Life Can Look Like

Healthcare can involve several specialties, such as cardiology, immunology, ENT, endocrinology, speech services or mental health, depending on the person’s features
Learning profiles are variable; mathematics, visuospatial reasoning, processing speed, attention or executive functions can be areas of difficulty for some people
Speech or resonance differences can occur when palate or velopharyngeal function is affected
Anxiety, ADHD, autism and other neurodevelopmental or mental-health conditions occur more often than in the general population but are not universal
Medical treatment and monitoring depend on the person’s cardiac, immune, calcium, endocrine and other health needs
Mental-health assessment becomes especially important when there is a meaningful change in thinking, perception, behaviour or functioning during adolescence or adulthood
Fatigue or attendance problems can occur when medical conditions affect stamina

❌ What People Often Get Wrong

22q11.2 deletion syndrome is one of the more common chromosomal microdeletion syndromes, but individual presentation varies enormously
Psychotic disorders occur at increased rates in adults with 22q11.2 deletion syndrome, but psychosis should not be expected or assumed in every young person
Learning difficulties are not a lack of effort; strengths and weaknesses should be assessed directly rather than inferred from the diagnosis
Relatively strong verbal skills in some people can mask difficulties in other areas, but no single cognitive profile applies to everyone
Some congenital heart problems are repaired in childhood while other cardiovascular issues require ongoing follow-up
Immune problems range from mild to severe and can change with age; vaccine and infection advice should follow the individual immunology plan
Palatal or resonance-related speech differences are not the same thing as a global communication disorder
A marked change in mental state or function deserves assessment, but ordinary adolescent behaviour should not be pathologised as psychosis
Genetic counselling can clarify recurrence risk and whether relatives need testing

✅ What Helps

Coordinate medical follow-up according to the person’s cardiac, immune, calcium, endocrine, palate and other health needs
Speech and language assessment when speech, resonance, language or communication is affected
Educational assessment and targeted support for identified learning or executive-function needs
Mental-health support and prompt assessment of significant new changes in thinking, perception, mood or functioning
Genetic counselling for the person and family when appropriate
Planned transition from paediatric to adult services
Support strategies are general examples, not treatment instructions. Medication, therapy and clinical decisions should be discussed with an appropriately qualified professional.

🏫 School & Education Support

Use concrete, explicit and structured teaching when this supports mathematics, language or executive-function needs
Consider additional processing time or assessment access arrangements only where individual evidence supports them
Provide speech and language support when palatal, speech or language needs affect communication or learning
Provide an agreed route to support for anxiety or mental-health concerns
Be alert to meaningful changes in thinking, behaviour or functioning during adolescence and early adulthood without treating normal behaviour as psychosis
Manage fatigue or attendance flexibly when cardiac or other medical issues affect stamina
Coordinate with the medical team when health needs affect school
Use an individual education or support plan, where available, when coordinated provision is required
Plan transition to adult health and mental-health services early

⚠️ Safety & Red Flags

Early signs of psychosis in late teens or early adulthood — needs urgent psychiatric referral
Significant anxiety or depression developing
Cardiac symptoms — any new symptoms in someone with known heart involvement needs immediate review
Immune deficiency — severe or unusual infections in early childhood
Complete educational disengagement
Safeguarding concerns — learning difficulties and naivety raise vulnerability
Any rapid change in mental state or behaviour in a young adult with 22q11.2 DS
Regression or deterioration in functioning
Transition to adult services with no mental health monitoring plan
Family members of the affected person offered genetic counselling
Check current clinical guidance. Awareverse aims to separate established evidence, practical support ideas and lived experience. If a statement here conflicts with current NHS, NICE or another relevant clinical authority, use the current professional guidance and tell us so we can review the page. Read the review policy.

🔗 Related Conditions

Intellectual Disability (ID) Autism

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