22q11.2DS stands for 22q11.2 deletion syndrome.

22q11.2DS was formerly known by many names, including DiGeorge Syndrome or Velo-cardio-facial syndrome (VCFS).

• A genetic condition people are born with, but one that is usually not inherited
• A genetic condition that has many features. Some of these are obvious at birth, and some develop later in life
• The most common microdeletion syndrome – a type of genetic condition we have known about only for about 20 years

• More common than cystic fibrosis or Huntington’s disease
• About one in every 2,000 babies are born with 22q11.2DS – boys and girls, from every community
• The most common cause of ‘blue babies’ – one in every 8 babies with tetralogy of Fallot has 22q11.2DS
• The second most common genetic cause of intellectual disabilities

• It can cause stillbirths, or babies to die; adults may have early mortality in middle age
• It is often disabling
• It can cause serious physical and mental health problems

• Families often search for many years for an answer – the ‘diagnostic odyssey’ – for multiple health problems
• Surgeries for babies and children, speech and learning difficulties in school, physical and mental health problems
• Multiple appointments, often lack of coordinated care, and uncertainties about work, relationships, long term outcome

• The piece missing on chromosome 22 is too small to be seen with the standard chromosome test in use for 60 years
• Testing only became available in the mid-1990s and not all doctors are familiar with these newer genetic tests
• The features and their severity vary from person to person so doctors may not recognize it
• The many previous names for 22q11.2DS can cause confusion (DiGeorge, velocardiofacial, conotruncal anomaly face…)

• It is a major cause of heart defects and other birth defects
• It is the only testable cause of schizophrenia
• It can cause seizures, curvatures of the spine, thyroid problems, low calcium, speech and swallowing problems, early onset Parkinson’s disease, hearing problems, anxiety disorders, and other treatable conditions
• 22q11.2DS may need ‘the whole hospital’ – potentially every kind of medical specialist and health care clinician
• It can affect people from any ethnic or social background

• Most of the individual features of 22q11.2DS are treatable – and for some, such as low calcium, prevention is possible
• Once a person is diagnosed with 22q11.2DS, doctors can monitor for and recognize problems early – and improve outcomes