Understanding Velo-Cardio-Facial Syndrome (VCFS)

Related: VCFS

by Dr. Robert Shprintzen
Tuesday, March 24, 2009

For growth charts specific to VCFS, go to the Plural Publishing web site for the book, Velo-Cardiop-Facial Syndrome, Volume I at http://pluralpublishing.com/publications_vcfs.htm and a monograph with enclosed growth charts will be available from Plural in the late summer of 2009.

Immune disorders - some children with VCFS may have a severe immune deficiency that requires aggressive treatment and avoidance of live viral vaccines. However, this is the exception rather than the rule. Severe immune deficiency occurs in relatively few children with VCFS. However many children with VCFS can have a milder form of an immune disorder. They may get more frequent colds, your infections, and other respiratory illnesses. In most cases, these are viral illnesses. An evaluation by an immunologist is indicated in most cases, but aggressive treatment of this type of problem is rarely required. Immune function typically improves with age.

Developmental delay - for the majority of children with VCFS, developmental milestones are typically at the outer limits of normal or only mildly delayed. In rare cases, the delay may be more severe. Children with VCFS tend to have lower muscle tone, walk later, talk later, and show evidence of social delay as well. These problems are most obvious in infancy and early childhood and the differences between most VCFS children and their peers tend to diminish over time.

Learning disabilities-problems with learning may be among the most upsetting of issues for parents of children with VCFS because they affect the child on a daily basis throughout their school years. There is actually a broad range of manifestations of these types of learning disabilities in children with VCFS. It has been found that children with VCFS have difficulty with problem solving and abstraction. They tend to learn better using concrete elements and lots of repetition. They have significant difficulties with mathematics, especially mathematical concepts. They also have difficulty with reading comprehension although their early reading skills are typically sound. In other words, they are able to learn how to read, word recognition, but have great difficulty in extracting meaning from written passages, especially when they require interpretation. A number of strategies have been developed for teaching children appropriate methods or improvement, including the use of techniques such as Kumon.

Behavioral problems - children with VCFS are often impulsive. They also can be inattentive and ADHD is a common diagnosis. They can often become fixated on the same video game, music, DVD, or food to the point where they will not try anything new. In some cases, obsessive-compulsive disorder (OCD) is diagnosed. Mood swings can also occur even early in childhood. In some cases, children become withdrawn and have difficulty relating to people other than their parents and immediate family. Sleep disturbance is common.

Endocrine problems - children with VCFS can have difficulties metabolizing calcium and this may be caused by hypoparathyroidism. Thyroid problems are common, especially during school years or adolescence. Routine monitoring for hypocalcemia is strongly recommended. As the child gets older, a bone scan to rule out osteopenia is also recommended.