Velocardiofacial syndrome (VCFS) is a genetic disorder that results from a deletion of genetic material on the q11.2 band of the 22nd chromosome. Due to the band involved with this syndrome, it is often referred to as 22q11 deletion syndrome. As with all syndromes, VCFS is defined by a number of comorbid, or coexisting, anomalies in a single individual that all have the same single cause. In this case, the cause is the deletion of the genetic material. The syndrome is known to have 180 phenotypes, or ways to express itself within affected individuals. Most individuals who have this syndrome are recognized by distinct facial features, congenital heart defects, palatal dysfunction, and hypernasal speech. It is important that these individuals are recognized early to ensure that interventions and treatments are implemented to help with the array of impairments that can be presented. In VCFS, no organ system is spared, though no individuals have been recorded to have all the associated anomalies, and no anomaly occurs all of the time. Individuals with VCFS face an array of statistically probabale medical, neurocognitive, psychiatric, educational, and behavioral problems.
Prevalence & Diagnosis
VCFS is most often recognized by either a pediatric cardiologist or by a speech-language pathologist due to the common characteristics of either congenital heart defects or palate dysfunction, respectively. VCFS was first diagnosed by the speech-language pathologist, Dr. Robert Shprintzen who characterized the syndrome by some of its phenotype traits. These included cleft palate or soft palate dysfunction (VELO), congential heart defects (CARDIO), and distinct facial characteristics (FACIAL). Many individuals do not present with any obvious anomalies at birth and about one-third of affected individuals do not have a congenital heart defect. Furthermore, most affected individuals do not have any overt (readily noticeable) clefts of the palate. So how do medical professionals find and diagnose affected individuals who show no obvious signs of VCFS?
Well, now with the human genome project revelations and new technology in genetic testing, if VCFS is suspected, an individual will undergo a FISH test. In addition, other technologies like MRI scans or ultrasounds can be used to find internal anomalies that may be associated with the syndrome.
Sometimes, children are determined to have VCFS when they reach school and many of the academic, behavioral, and learning deficits present themselves. Some of these include lower than expected intelligence (IQ). Many children with VCFS have a verbal IQ of 75 to 80 and a performance IQ of 70 to 75. A typical IQ range is considered to be 85 to 115. Also, many affected children present with syndromic ADD/ADHD and are highly distractable within the classroom setting.
When to Seek Testing
If an individual or child you know of either personally or professionally is known to have two or more major anomalies, then you should inquire if they have been tested by a geneticist for velocardiofacial syndrome or any other possible syndrome. This syndrome can affect any system within an affected individual, and can include medical impairments, neurological, psychological, or behaviorial problems, as well as educational deficits.
Of course, this may not be an easy conversation start with anyone. It is best to first gather advice and information from a medical professional who has experience with this disorder. Many craniofacial teams are well-equipped to help in this process, as they typically have access to a number of professionals who can help to diagnose and follow through on any needed interventions and treatments.
Educating Children with Velo-Cardio-Facial Syndrome by Donna Cutler-Landsman
The Upper Midwest VCFS/DGS Community
Velo-Cardio-Facial Syndrome article from National Institute of Health