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22q11.2 Deletion Syndrome

22q11.2 Deletion Syndrome - How to prevent?

22q11.2 Deletion Syndrome - Treatments

Can 22q11.2DS be cured?

While it is not possible to cure 22q11.2DS, much can be done to make sure your child has the best possible outcome.

How is 22q11.2DS managed?

The multidisciplinary medical team looking after your child will be able to address specific medical concerns and routine 22q11.2DS-related healthcare issues. The team of specialists may consist of the following:

  • Paediatrician
  • Psychiatrist
  • Geneticist
  • Occupational therapist
  • Immunologist
  • Endocrinologist
  • Cardiologist and/or cardiothoracic surgeon
  • Plastic surgeon
  • Cardiologist and/or cardiothoracic surgeon
  • Developmental physician
  • Physiotherapist
  • Speech therapist
  • Ear, nose and throat (ENT) specialist

Below are some related medical issues and how they can be managed:

Medical issue
Developmental delayEarly intervention therapies
Hypocalcaemia/hypoparathyroidismCalcium and vitamin D supplementation
Heart defectMedications and/or surgery
Cleft palateSpeech therapist, surgery
Anxiety, mood disorders, behavioural issuesTherapy, counselling and/or medication
Immune deficiencyTreatment of infections and/or irradiated blood products

The outlook for persons with 22q11.2DS varies depending on the severity of their congenital disabilities. Some of these conditions can be life-threatening.

However, with ongoing treatment and support, many people with 22q11.2DS live active, fulfilling lives.

22q11.2 Deletion Syndrome - Preparing for surgery

22q11.2 Deletion Syndrome - Post-surgery care