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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

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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. Heart defects are present in approximately 75% of people — commonly conotruncal defects including tetralogy of Fallot, interrupted aortic arch, and ventricular septal defects. Immune deficiency due to thymic hypoplasia or aplasia is common in infancy, usually improving with age. Palatal abnormalities — cleft palate or velopharyngeal insufficiency causing a nasal voice — are present in around 75% of people.

Learning differences are present in the majority — typically affecting maths, abstract reasoning, and processing speed. Verbal abilities are usually stronger than non-verbal. Most people with 22q11.2 DS have intellectual functioning in the borderline to mild disability range, though the range is wide.

Psychiatric conditions are a significant concern: approximately 25-30% of adults with 22q11.2 DS develop schizophrenia or schizoaffective disorder. 22q11.2 DS is the single greatest known risk factor for schizophrenia. Anxiety, ADHD, and autism features are also common.

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

Medical appointments are frequent — cardiology, immunology, ENT, psychology
Learning is affected — maths, abstract reasoning, and processing speed particularly
Speech may be nasal or unclear due to palatal involvement
Anxiety is common and often significant
Social communication difficulties are common — autism features occur in a significant minority
Medication and monitoring are part of life for many
The range of how the condition presents varies enormously — some people are mildly affected, others significantly
Mental health must be monitored particularly in late teens and early adulthood
Fatigue may be significant if cardiac involvement is present
The condition affects multiple systems — medical care involves many specialties

❌ What People Often Get Wrong

22q11.2 DS is not rare — it is one of the most common chromosomal deletion syndromes
The psychiatric risk is real and must be monitored — early psychosis intervention changes outcomes
Maths difficulties in 22q11.2 DS are neurological, not lack of effort
The verbal strength can mask the significant non-verbal and processing difficulties
Heart defects may be repaired in childhood but cardiac monitoring continues lifelong
Immune deficiency usually improves but the person should not be treated as permanently immunocompromised in most cases
Speech differences due to palate involvement are not the same as communication disorder
The enormous variability means two people with 22q11.2 DS can present very differently
Mental health deterioration in early adulthood must be taken seriously and referred urgently
The genetics have implications for family members — genetic counselling is important

✅ What Helps

Multi-disciplinary medical team
Cardiology and immunology monitoring
Speech and language therapy
Educational support for learning
Mental health monitoring from adolescence
Early intervention programs
Calcium and immune supplements
Genetic counselling for families
Specialist 22q11 clinics
Transition planning for adulthood
Informational only. Consult professionals for individualised support.

🏫 School & Education Support

Maths support — concrete, visual, and structured approaches
Extra processing time in all timed tasks
Speech and language therapy if speech or communication is affected
Anxiety support — a trusted adult, flexibility, and calm environment
Mental health awareness and monitoring as the young person enters late teens
Fatigue management if cardiac involvement is present
Regular liaison between school and medical team
EHCP where learning and support needs meet threshold
Peer support and social skills facilitation
Transition planning including mental health monitoring into adulthood

⚠️ 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

🔗 Related Conditions

Intellectual Disability (ID) Autism

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