Fiducia Together22q11 deletion syndrome
Also called DiGeorge syndrome, Velocardiofacial syndrome
The commonest chromosome deletion after Down's syndrome. Heart, immune system, calcium, speech, and a substantial psychiatric risk.
Important: This page is general information, not medical advice, and it is not a diagnosis. If you are worried about your health or someone else's, speak to a GP, pharmacist, or call 111. In an emergency, call 999.
What it is
22q11 deletion syndrome affects around 1 in 2,000 to 4,000 births, making it the commonest chromosomal deletion after Down's syndrome. Most people have never heard of it.
A small piece of chromosome 22 is missing, and because that region contains many genes, the effects are wide: congenital heart defects, immune deficiency, low calcium, palate problems, learning difficulties and a distinctive speech pattern.
The feature that most needs stating is psychiatric. Around 1 in 4 people with 22q11 develop a psychotic illness, usually in adolescence or early adulthood. That is a very high risk and it means anybody with this diagnosis needs mental health monitoring built into their care as standard, not offered after a crisis.
Signs you might notice
Congenital heart defects, often the reason for diagnosis in infancy.
Low calcium, causing jitteriness or seizures in the newborn period and sometimes recurring later.
Recurrent infections from immune deficiency.
Cleft palate or a submucous cleft, causing nasal speech. See cleft lip and palate.
Learning difficulties, usually with better verbal than non-verbal ability, and specific difficulty with maths and abstract reasoning.
Anxiety, ADHD and autism traits in childhood, and psychosis risk from adolescence.
How it can affect day-to-day life
Calcium is the thing that catches people out. Low calcium can recur at any age, particularly during illness, puberty and pregnancy, and it causes seizures. It should be checked regularly and always during acute illness.
Live vaccines need care in anybody with significant immune deficiency, so immune status should be known before vaccination.
The transition to adult services is where mental health monitoring is most often lost, at precisely the age when psychosis risk peaks.
Supporting someone well
Check calcium routinely and during any illness, surgery or pregnancy.
Know the immune status before live vaccines.
Build mental health monitoring into adult care from adolescence. Do not wait for a crisis; ask about mood, anxiety and unusual experiences at every review.
Support the learning profile: strong verbal ability masks real difficulty with maths, planning and abstract concepts, so check understanding rather than assuming.
Get speech and language therapy for nasal speech, which is treatable.
Ask for genetic counselling; it is inherited in around 10% of cases.
Fiducia Guardian holds the cardiac, immune, calcium and mental health picture in one record, which in a condition spanning five specialities is what stops something being dropped.
Where to get help
Max Appeal and Unique both support families with 22q11 deletion.
Ask for a specialist 22q clinic; several exist in the UK and they coordinate the multiple specialities.
New unusual experiences, withdrawal or paranoia in a young person with 22q11 needs prompt mental health assessment.
Tools we make that might help
These are our own products. We have put them here because they do something specific for this condition, not because every page needs a list.
Fiducia Guardian
Cardiac, immune, calcium and mental health held in one record across five specialities.
Last reviewed 2026-08-28 by Fiducia Together · Next review due 2027-08-28
Important: This page is general information, not medical advice, and it is not a diagnosis. If you are worried about your health or someone else's, speak to a GP, pharmacist, or call 111. In an emergency, call 999.