22q11.2 Deletion Syndrome

Info shortcuts

Back to Info Hub • Browse directory • Language & terminology

Overview

22q11.2 Deletion Syndrome also called DiGeorge Syndrome or VCFS caused by deletion of small piece of chromosome 22. Affects 1 in 4000 births one of most common genetic conditions. Presentation varies enormously. Over 180 possible features with no single person having all. Common features include heart defects 75 percent immune deficiencies cleft palate kidney problems learning disabilities distinctive facial features. Speech feeding difficulties common in babies. Many children have recurrent infections due to immune issues. About 30 percent develop serious mental health problems in adolescence adulthood. Learning disabilities range mild to moderate. Speech delays common. Many have non-verbal learning difficulties strong rote learning weak abstract reasoning. Mental health risks include schizophrenia 25-30 percent risk anxiety depression. Early intervention with immunology cardiology speech therapy educational support significantly improves outcomes. Genetic diagnosis enables proactive monitoring. Many adults live independently with appropriate support.

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 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

Note: Informational only. Consult professionals for individualised support.

Related Conditions

Intellectual Disability (ID) • Autism