What is Velocardiofacial Syndrome?

Velocardiofacial syndrome (VCFS) is a group of defects and problems that are congenital. Of these the most prominent may be cardiac defects and problems like cleft palate. Other issues such as poor feeding or growth can quickly present themselves, and more conditions may develop with age.

The main cause of velocardiofacial syndrome is partial deletion of the 22nd chromosome, which may manifest in numerous ways. People often refer to the syndrome as being identical to something called DiGeorge syndrome, but DiGeorge is a group of symptoms that emerge in some, but not all, VCSF cases. Children with DiGeorge must have two of the following three defects: immune deficiency due to thymus irregularities, heart defects like truncus arteriosus, and evidence of underfunctioning parathyroid gland. It’s worth understanding the distinction, because VCSF can come in other forms with almost every major heart defect and there are many other medical/mental conditions that could occur with it.

It would be hard to list all potential manifestations of velocardiofacial syndrome. In addition to common ones like heart defects, cleft palate, learning disabilities, feeding troubles, and poor immune function, there are so many other potential illnesses. These include errors in shape or function of kidneys, small sized head, lower than normal IQ, hearing loss or hearing difficulties and paralyzed vocal cords. Many of the severe aspects of VCSF get diagnosed early, since about seven of ten children with this illness have a major heart defect. It should also be stated that though the list of possible symptoms is long, not all children have all of them or will share the same disease characteristics.

As mentioned, some aspects of velocardiofacial syndrome appear later. Adults with this disease are much more prone to developing several psychiatric disorders like bipolar disorder and schizophrenia. Attention deficit and hyperactivity disorder (ADHD) becomes apparent in some children when they enter school. Some also have a decrease in IQ level as they progress through school, and when IQ is affected, educational support will be needed.

It can take many different specialists to address the issues a child with this condition faces. Initially, any heart defects might require surgery and pediatric plastic surgeons may need to attempt cleft palate repair. Pediatric infectious disease specialists might treat deficits in immunities, and other help could come from otolaryngologists and psychiatrists. Having a pediatrician or another doctor that can help coordinate the team of specialists needed is of great use.

Even with velocardiofacial syndrome, people with proper treatment may live well into adulthood. The degree to which adulthood requires support depends on level of IQ and functionality. There are support groups available for families who have a child with this condition. With the changes a VCFS child may bring to a family, having support could be of great use.