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22Q11.2 Deletion Syndrome (Digeorge Syndrome, Velocardiofacial Syndrome), Pediatric

Anne S. Bassett, MD, FRCPC and Donna M. McDonald-McGinn, MS, LCGC Reviewed 10/2018
 


BASICS

DESCRIPTION

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

DIAGNOSIS

HISTORY

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

  • Neonatal and more commonly later onset hypocalcemia may be ...

TREATMENT

GENERAL MEASURES

  • Standard treatments are generally effective for each associated feature.

  • Vitamin D supplements (those with hypocalcemia may need 1,25-D calcitriol supplementation and calcium ...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Monitor growth and development.

  • Monitor hearing.

  • Monitor for emerging endocrine, psychiatric, autoimmune, skeletal, obesity, and other disorders.

  • C...

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):868–869...

CODES

ICD9

  • 758.32 Velo-cardio-facial syndrome

  • 279.11 Digeorge’s syndrome

ICD10

  • Q93.81 Velo-cardio-facial syndrome

  • D82.1 Di George’s syndrome

SNOMED

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

FAQ

  • Q: Can patients have severe intellectual impairments?

  • A: They can but relatively rarely. Most patients with 22q11.2 deletion syndrome have IQs in the borderline range, about 30% fall in the mild in...

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