22q11.2 Deletion Syndrome (Digeorge Syndrome, Velocardiofacial Syndrome), Pediatric

Reviewed 06/2017



22q11.2 deletion syndrome, formerly known as DiGeorge or velocardiofacial syndrome, is a multisystem disorder with variable severity and number of associated features classically inc...



  • The syndrome is underrecognized at all ages; thus, an index of suspicion is needed for any child with multisystem features.

  • Neonatal and late-onset hypocalcemia may be present secondar...


Additional Therapies

General Measures

  • Cardiac monitoring for aortic root dilation

  • Vitamin D supplements (those with hypocalcemia will likely need 1,25-D supplementation and calcium supplements)

  • ...

Ongoing Care

Follow-up Recommendations

Patient Monitoring

  • Cardiac monitoring for aortic root dilation

  • Monitor growth and development.

  • Monitor hearing.

  • Monitor for emerging endocrine, psychiatric, autoimmun...

Additional Reading

  • Al-Sukaiti  N, Reid  B, Lavi  S, et al. Safety and efficacy of measles, mumps, and rubella vaccine in patients with DiGeorge syndrome. J Allergy Clin Immunol.  2010;126(4):868–...



  • 758.32 Velo-cardio-facial syndrome

  • 279.11 Digeorge’s syndrome


  • Q93.81 Velo-cardio-facial syndrome

  • D82.1 Di George’s syndrome


  • 460436001 22q11 microdeletion with complete DiGeorge seque...


  • Q: Can patients have severe intellectual impairments?

  • A: Most patients with 22q11.2 deletion syndrome have IQs in the borderline range, about 30% fall in the mild intellectual deficit range; a mino...

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