Velo-cardio-facial syndrome: A review of 120 patients

R. Goldberg, B. Motzkin, R. Marion, P. J. Scambler, R. J. Shprintzen

Research output: Contribution to journalArticlepeer-review

383 Scopus citations


A series of earlier reports has described the velo-cardio-facial syndrome (VCFS), a syndrome of multiple anomalies including cleft palate, heart malformations, facial characteristics, and learning disabilities. The patients reported previously were primarily ascertained from a craniofacial program at a large tertiary medical center. Recent reports, including a companion paper in this issue, suggest that this common syndrome of clefting is also a common syndrome of congenital heart defect (CHD) which is expressed as familial examples of DiGeorge sequence. Appreciation of more severely affected cases of VCFS and the detection of mild expressions have led to a broadening of the phenotypic spectrum of the syndrome. The purpose of this report is to describe the full spectrum of VCFS, including several new manifestations and to compare the VCFS phenotype with published cases of 'familial DiGeorge sequence' which are now thought to represent examples of VCFS.

Original languageEnglish (US)
Pages (from-to)313-319
Number of pages7
JournalAmerican journal of medical genetics
Issue number3
StatePublished - 1993


  • DiGeorge sequence
  • cardiac defect
  • cleft palate
  • cleft palate
  • congenital heart anomalies
  • conotruncal anomaly face syndrome
  • monosomy 22q11
  • psychiatric disorders
  • velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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