Facts of Velocardiofacial Syndrome

Velocardiofacial syndrome

Velocardiofacial syndrome, or VCFS, has had over 180 clinical features described. Though no individual with Velocardiofacial syndrome has all 180 findings, it is also true that no one with the syndrome has only one or two of the findings.

The problem in diagnosis of is many of the anomalies associated with the Velocardiofacial syndrome are not apparent at birth, or even in early childhood, primarily because they are behavioral, or in some cases because they are "silent" anomalies, meaning that they are not symptomatic. This disorder is seen in 1 in 700 births, but not everyone with Velocardiofacial syndrome has tetrology of fallot, and not every child with tetrology of fallot has Velocardiofacial syndrome.

Velocardiofacial syndrome

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Velocardiofacial Syndrome: How is Velocardiofacial Syndrome diagnosed?

Velocardiofacial Syndrome

Velocardiofacial Syndrome is suspected as a diagnosis based on clinical examination and the presence of the signs and symptoms of the syndrome.

A special blood test called FISH (fluorescence in situ hybridization) is then done to look for the deletion in chromosome 22q11.2. More than 95 percent of individuals who have Velocardiofacial Syndrome have a deletion in chromosome 22q11.2.

Those individuals who do not have the 22q11.2 deletion by standard FISH testing may have a smaller deletion that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific gene studies to look for mutations in the genes known to be in this region. Again, these studies may only be available through a research lab.

Velocardiofacial Syndrome

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Signs and Symptoms of Velocardiofacial Syndrome

Velocardiofacial Syndrome

Children with Velocardiofacial Syndrome can have a range of characteristics, which will dictate what treatment is required. The cleft palate is usually repaired when the infant is around 10 months old or when he or she is starting to make sounds of speech. Palate surgery often takes about two or three hours, with the infant staying in the hospital one or two nights. Some children with Velocardiofacial Syndrome experience speech difficulties even when the palate looks normal. In addition, orthodontic treatment may be necessary.

If there is evidence of developmental delay, the child should be referred to an infant stimulation program to receive thorough developmental testing and appropriate interventions. In California, parents should contact their local Regional Center. Such programs are federally mandated and are available to all eligible children regardless of income.

Velocardiofacial Syndrome

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Velocardiofacial Syndrome in Intellectual Disability

Velocardiofacial Syndrome

Velocardiofacial syndrome (VCFS) is an autosomal dominant 22q11.2 microdeletion syndrome, the most common microdeletion syndrome in humans. Its phenotype includes learning difficulties, intellectual disability, congenital heart disease, abnormalities of the palate, hypocalcemia, immune deficiency and characteristic facial features. The behavioral phenotype includes intellectual abilities ranging from borderline intelligence to moderate intellectual disability, poor communication skills and a high frequency of psychiatric disorders with psychotic and affective symptoms developing in adolescence or early adulthood. The occurrence of borderline personality disorder with Velocardiofacial Syndrome as part of its behavioral phenotype is yet to be reported. A case report of a 34-year-old Caucasian woman with mild intellectual disability is described with a history of fleeting psychotic and affective symptoms with poor response to treatment. It was when her diagnosis of borderline personality disorder was confirmed that clozapine was commenced, with a remarkable improvement in her affective symptoms, instability of mood and fleeting psychotic symptoms. Self-injurious and other maladaptive behaviors abated and meaningful engagement with services became possible. The case highlights that borderline personality disorder needs to be recognize as part of the behavioral phenotype of Velocardiofacial Syndrome. The treatment implications include the need to consider treatment for resolution of cognitive-perceptual (psychosis like) symptoms, symptoms of affective instability, symptoms of behavioral dyscontrol, anxiety symptoms and self-injurious behavior. Further longitudinal research is needed to investigate the strength of the association between Velocardiofacial Syndrome and presence of borderline personality disorder symptoms and intellectual disability. Treatment options need to be explored with evidence based research of Velocardiofacial Syndrome for treatment of psychiatric disorders associated with the condition.

Velocardiofacial Syndrome

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