Features or Symptoms of 22q11.2 Deletion Syndrome 

22q11.2 Deletion Syndrome has more than 180 possible symptoms and issues can occur in many different body systems for example, heart, palate, and learning style. It makes sense that patients should have a comprehensive evaluation of all areas which could be affected. The Practical Guidelines for Managing Patients with 22q11.2DS includes a list of multisystem features and recommended assessments across the lifespan. The guidelines can be found here

Upon initial diagnosis the standard assessments for all ages include:

  • Cardiology

  • Endocrinology

  • Immunology

  • Speech/Language/Developmental Assessments

  • A Renal Ultrasound (to check the kidneys)

  • X-rays of the neck (in children old enough to cooperate and where the bones are well ossified – so ~ 3 to 4 years of age)

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