Overview
22q11.2 deletion syndrome is a genetic condition caused by a missing small piece of one chromosome. It can affect the heart, immune system, and development in varying ways. This is general educational information, not medical advice.
Symptoms
- heart differences present from birth in some
- frequent infections
- developmental and learning differences
- feeding or speech difficulties
Causes
- a missing small segment of chromosome 22, usually occurring by chance
Risk factors
- usually not inherited, though it can be passed on in some families
Prevention
- no prevention; genetic counselling can provide information for families
Emergency warning signs
- serious breathing or heart symptoms require emergency care
- signs of serious infection
Evaluation & tests
Educational note: clinicians confirm this condition with genetic testing. This library does not diagnose.
Treatment education
Educational overview: care is multidisciplinary and individualized by specialists. This library does not prescribe.
Self-care
General education: coordinated specialist care and family support are important; genetic counselling can help families understand the condition.
When to seek care
Families are guided by their specialist care team; seek advice for new or changing symptoms.