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Montefiore-Einstein Regional Center for 22Q11.2 Deletion Syndrome

22q11.2 Deletion Syndrome

Signs and Symptoms

The variable and unique characteristics of 22q11.2DS mean every patient requires individualized medical treatments and procedures. The presentation may differ, but all patients must be evaluated and followed medically to identify medical problems and to prevent avoidable complications. Some common characteristics of the syndrome are:

  • Heart defects
  • Cleft palate
  • Feeding or gastrointestinal abnormalities
  • Low calcium or endocrine abnormalities
  • Growth delay
  • Psychiatric disturbance
  • Kidney problems
  • Immune system underdevelopment and risks for infections
  • Sensorineural hearing loss
  • Developmental delay, cognitive and speech delay