Velocardiofacial Syndrome

Posted on May 7th, 2007

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Velocardiofacial syndrome (VCFS) is the syndrome most commonly associated with a cleft palate, most usually cleft of the soft palate. A cleft lip may also occur. The incidence of VCFS is approximately 1:2000 of live births, and it occurs in 8% of cleft palate cases¹.

VCFS is also known as Shprintzen syndrome after Dr. Robert Shprintzen who first described it in 1978. Though the two terms are often used interchangeably, DiGeorge sequence and VCFS are clinically distinct but overlapping conditions.

The cause
The cause of VCFS is not known, although it is known to be a genetic disorder. Though the gene (or genes) responsible has not been identified, what has been ascertained is that a small part of chromosome 22, known as 22q11, is missing in the vast majority of individuals - approximately 82%² who are diagnosed as having VCFS.

Associated conditions
Aside from cleft palate, there are up to 184 other anomalies commonly associated with VCFS, including heart defects, unique facial characteristics (elongated face, almond-shaped eyes, small ears, wide nose), speech and feeding problems, middle ear infections, and learning difficulties. Not all anomalies are present in the child, nor is any one anomaly present in all cases. The features with which the child is born do not get progressively worse over time.

Inherited?
VCFS is an autosomal disorder, which means that only one parent needs to have the gene in order to pass it on to their offspring. In the case of one of the parents having the gene, there is a 50% chance of VCFS being passed on to the offspring. However, only 10-15% of cases are inherited³. There is no difference in the incidence of VCFS between the sexes.
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1. Figures from the Velo-Cardio-Facial Syndrome Educatioal Foundation in Syracuse, New York, USA. www.vcfsef.org/ [link verified 07 May 2007] [↩]
2. According to Peter Scambler, M.D. Institute of Child Health, London, available at http://www.crosslink.net/~marchett/vcfs/gene1.htm [accessed 29 June 2000, link broken 07 May 2007] [↩]
3. Figures from the National Institute on Deafness and other Communication Disorders, part of the National Institute of Health in Bethesda, Maryland, USA. http://www.nidcd.nih.gov/health/voice/velocario.htm [verified 07 May 2007] [↩]

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