DiGeorge syndrome

Background

As prevalent as 1/2000 people in US
22q11 chromosomal defect
Keep in differential for hypocalcemia of unknown etiology in pediatric patient

Clinical features

CATCH-22[1]

Cardiac defects (commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot)
Abnormal facies - micrognathia, long face, etc.
Thymic hypoplasia - immune deficiencies
Cleft palate
Hypocalcemia due to hypoparathyroidism

Differential diagnosis

Evaluation

Management

Disposition

See also

References

Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.

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