Velocardiofacial Syndrome Differential Diagnoses

Updated: Dec 15, 2020
  • Author: M Silvana Horenstein, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
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Diagnostic Considerations

Important considerations

Upon suspecting velocardiofacial syndrome (VCFS), perform the following:

  • Perform chromosome testing

  • Test the chromosomes of the parents or children of the affected person

  • Give appropriate genetic counseling

  • Use irradiated cell blood products (to avoid risk of transfusion acquired graft-versus-host disease by transfused lymphocytes)

Special concerns

The following are special concerns:

  • Consider the possibility of VCFS in any fetus diagnosed with conotruncal heart disease on prenatal ultrasound

  • To make a prenatal diagnosis, perform amniocentesis for cytogenetic and fluorescence in situ hybridization (FISH) testing

  • Considerable variability in manifestations is noted among affected family members

Other problems to be considered

Also, consider the following in patients with suspected VCFS:

  • DiGeorge sequence

  • Expressive speech delay

  • Isolated cleft palate

  • Isolated congenital heart disease

  • Pierre Robin sequence

Differential Diagnoses