Velo-Cardio-Facial Syndrome (VCFS)

What is Velo-Cardio-Facial Syndrome?

Velo-Cardio-Facial syndrome (VCFS) is a genetic, autosomal dominant condition defined by Shprintzen in 1978. Its frequency is estimated at 1 per 4000 live births. In most patients, a deletion (Figure 2) on chromosome 22q11.2 (Figure 1a and 1b) is responsible for the syndrome. Most of these deletions occur spontaneously (are not inherited from parent to child).

 

Figure 1a. Click on the chromosome 22 (circled in red) to magnify the chromosome and see the region involved in VCFS.

Figure 2. Chromosomes imaged with Fluorescence in situ hibridization (FISH)—normal (left) and from an individual with VCFS (right). On the right, a pair of yellow dots (areas of genes) are missing (top of picture) due to a deleted genes on chromosome 22.

A 4-year-old girl with
Velo-Cardio-Facial syndrome

The features of VCFS include cardiac malformations, cleft palate or velopharyngal insufficiency, a characteristic facial appearance, learning disabilities and more than 40 other physical anomalies (Goldberg et al., 1993, http://www.vcfsef.org/facts.html).

Studies indicate that nearly half of individuals with VCFS have mental retardation. Particular problems with abstract reasoning, language delay, mood regulation, monotonous voice, and difficulties in social interaction have been described (Golding-Kushner et al., 1985). A nasal speech tone is observed in the vast majority of individuals with VCFS as well as difficulties with articulation whose origin is assumed to be the cleft palate and pharyngal hypotonia.

Some researchers have described frequent behavioral or psychiatric problems in individuals with VCFS. For example, Shprintzen et al. (1992) observed that 10 to 20% of over 100 patients developed psychotic symptoms (particularly schizophrenia) during adulthood. Papolos et al (1996) also observed a high rate (70-100%) of psychiatric symptoms in 20 children and adolescents. These symptoms were described as similar to those occurring in individuals with bipolar (manic-depressive) disorder.

Within populations of individuals with schizophrenia, researchers have found some carriers of the 22q11 deletion occurring in conjunction with only minimal physical features of the VCFS phenotype.

Studies

We are currently not recruiting for this study but we may in future. Please contact us for more information.

Contact: Fumiko Hoeft

Email: fumiko@stanford.edu

For publications on this study click here.