Frequently Asked Questions
  1. How many of the manifestations of VCFS can I expect my child to have?
  2. My child is small for his/her age. Will that change?
  3. My child seems to be "behind", developmentally. Will he/she catch up?
  4. What kind of learning issues can I expect? Do all VCFS kids have these challenges?
  5. I can't seem to get school personnel to take me seriously. What can I do to get help for my child?
  6. Where is the best place for me to get medical care for my child? Should we visit a VCFS clinic?
  7. Do all children with VCFS develop psychological and psychiatric problems? What can I do to avoid them?
  8. When should I tell my child that he/she has VCFS?
  9. What are the chances of my having another child with VCFS if I don't have it and my spouse doesn't have it? Should I have my other children tested?
  10. I have been told that my child has DiGeorge syndrome. Is that the same as VCFS? What about partial DiGeorge? Is that the same as a less severe case of VCFS?
  11. If VCFS is as common as some people say, why don't I hear more about it?

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  1. How many of the manifestations of VCFS can I expect my child to have?
    Velo-cardio-facial syndrome, or VCFS, has had over 180 clinical features described, and these are listed on the Specialist Fact Sheet distributed by the Educational Foundation. Probably no individual with VCFS has all 180 findings, but it is also true that no one with the syndrome has only one or two of the findings. Many of the anomalies associated with the 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.

    For example, nearly all individuals with VCFS have some degree of learning difficulty that does not become apparent in many cases until six, seven, or eight years of age. Structural kidney anomalies are also common, but in most cases cause no clinical problem and are sometimes discovered by chance during an X-ray procedure for some other problem. Therefore, it is important for you to know the full range of possible abnormalities associated with the syndrome so these can be shared with your doctors.

    With the type of information provided on the Specialist Fact Sheet, there should be few unpleasant surprises, and abnormalities can be anticipated rather than discovered by chance. Most individuals with VCFS do have multiple abnormalities that become expressed over time, but few, if any, of the late-onset problems pose major threats to health, especially when managed properly.

     

  2. My child is small for his/her age.  Will that change?
    There are a number of reasons why children with VCFS may be smaller than normal. In those cases where there is severe heart abnormality, small size is very common, but significant catch-up growth should be expected after definitive repair. It has also been found that many children with VCFS are slightly shorter than one might expect in relation to their parent's height; but, in these cases, height is not abnormally short, just slightly shorter than one might anticipate. However, it should also be pointed out that adults with VCFS are not typically very short. There have not been any studies that have plotted the height of a large number of adults with VCFS and compared them to the general population, but the clinical experience is that adults with VCFS tend to be of normal height. There have been a small number of children with VCFS who have been of very short stature and who have required growth hormone treatment. However, this number is so small that it may not be any larger than the number of children in the general population who require such treatment.

    Another observation is that the pattern of growth in VCFS may be slightly different than for other children. As infants and toddlers, children with VCFS sometimes lag behind their peers in growth; but, as they approach school age, they do tend to catch up to other four and five-year-olds fairly quickly. One also needs to be careful over the interpretation of the term "small." Infants and toddlers are often weighed in doctors' offices, but sometimes their length is not measured. Therefore, low weight doesn't always mean that a child is failing to thrive. Because, as stated above, children with VCFS are often shorter than normal as infants, their weight may also be low. This is especially true of children with severe heart anomalies that cannot be completely repaired in the neonatal period. Poor circulation can dramatically reduce linear growth, and it is therefore often true that children who are short do not eat as much as other children, because they do not require so many calories to maintain their growth velocity, and eating more will not make them taller.

    It is therefore important to calculate weight in relation to height as an index of proportionality. This is especially important because feeding babies more than they need for their current growth velocity may make their vomiting worse.

     

  3. My child seems to be "behind", developmentally. Will he/she catch up?
    Developmental delay is a common manifestation in children with VCFS, but it is variable with some children showing almost no early problems and others being quite delayed. The majority of children, however, tend to fall towards the outer limits of normal for most motor milestones. Specifically, data derived from the membership of the Educational Foundation shows that the average age for walking is closer to 15 or 16 months than 12 months (the average for the general population). The delay in motor milestones has many contributors, including the generalized hypotonia (low muscle tone) that is common in VCFS. Also contributing are factors such as congenital heart disease, multiple hospitalizations and operations, chronic illness, and other factors that can restrict a child's activity. However, some degree of delay is to be anticipated. That being said, the large majority of children with VCFS do go through several "spurts" of motor development, especially between 3 and 4 years of age that tend to narrow the differences between themselves and other children quite a bit. By school age, the majority of children with VCFS tend to perform close to the normal range in terms of motors skills, although they may always be a little more hypotonic or even "clutzier" than other kids. Severe motor impairment is very uncommon among children with VCFS. Speech and language milestones tend to be slightly more delayed, with the average age of onset of the first word at 19 months, but again this is very variable. However, the same spurt shown by children with VCFS in motor milestones also occurs with speech and language. It would seem that children with VCFS have their own developmental profile that differs from that of other children. In general, most show significant "catch-up" before their fourth birthday.

     

  4. What kind of learning issues can I expect? Do all VCFS kids have these challenges?
    To date, essentially all individuals with VCFS have shown some type of learning disorder. For the large majority of children with VCFS, specific learning disabilities become obvious by 7 or 8 years of age. Although mental retardation can occur in VCFS, the diagnosis of mental retardation is reserved for a very small percentage of cases. However, IQ scores have been noted to drop in children with VCFS, often between 7 and 10 years of age, although this is variable. A drop in IQ scores does not represent a loss of intellect. Rather, it reflects the specific type of learning flaws that children with VCFS have. Many IQ tests, particularly the Wechsler scales, depend heavily on language mediated problem solving and abstract logic. These are specifically the areas in which children with VCFS do the poorest. Difficulty with abstraction and problem solving tends to interfere most with mathematics and reading comprehension. Children with VCFS tend to do well early on with letter recognition and sounding out words for early rote reading. However, later on when they are asked to extract meaning from a paragraph or page, they have a great deal of difficulty. Concepts are difficult to grasp, even things as seemingly basic as "opposite" or "reverse." Therefore, learning is best done by repetition and breaking things down into the smallest concrete units.

     

  5. I can't seem to get school personnel to take me seriously. What can I do to get help for my child?
    It is always best to work with a school system, rather than against it. Unfortunately, people often tend to become confrontational when they are frustrated by lack of action. The first and best step is to know what the schools must provide under state education law and individual school system policy. Once this is understood, it is always best to find a friendly ear within the school hierarchy with whom reasonable conversation is possible. Confine contacts to important issue (in other words, don't wear out your welcome) and work in concert with the people in the schools rather than being persistently contrary. It is often true that there is more than one alternative to success. Allow teachers to express themselves and then react to that expression with candor, but kindness. There is no surer way to have difficulty than by challenging people so that they become defensive. Finally, get the support of someone expert in dealing with VCFS and have them work with you, as well. If you are well armed with facts and experts, and the school is willing to work with you, the outcome will be positive.

     

  6. Where is the best place for me to get medical care for my child? Should we visit a VCFS clinic?
    This is really one of the most difficult questions to answer. As is true with many disorders that have only recently been discovered, there may not be a large number of people available with enormous experience or expertise. This is, in fact, the very reason for the formation of the VCFS Educational Foundation. It is possible to call or email the Foundation and ask if there are Professional Members located at a local facility. Although the Foundation does not endorse the skills or expertise of specific individuals, their membership in the Foundation at least speaks to their interest. There are hundreds of Professional Members from many different disciplines located around the world. There are only a few specialty centers that deal exclusively with VCFS at present, and hopefully that number will expand. It is obviously not possible for everyone to visit one of these centers. In dealing with local doctors, it is always a good idea to be direct in asking questions about experience with VCFS. Use the Educational Foundation's web site to arm yourself with as much information as possible about the syndrome so you can ask intelligent questions. If you are not satisfied with the answers, then you always have the option of seeing someone else. As in the previous FAQ, try not to be confrontational. No one enjoys an interaction with someone who tries to put you on the defensive. This, in fact, works both ways. Don't be put on the defensive by your doctor, and don't put your doctor on the defensive.

     

  7. Do all children with VCFS develop psychological and psychiatric problems? What can I do to avoid them?
    As is true with all clinical manifestations of genetic syndromes, it is rare for any single abnormality to be present in every case. It is also true that even when present, not all anomalies have the same degree of severity. The psychiatric studies that have been published until now have presented some conflicting information, but it is safe to say that the majority of individuals with VCFS have some behavioral disorders. In most of these cases, the manifestations are not very severe and often do not require medical management. The frequency of severe psychiatric problems is fairly low, probably under 20%, but this exact figure is not known. Part of the problem in psychiatric investigations is that the severity of psychiatric illness varies with age, typically becoming more apparent in adult life. However, enough adults with VCFS have been studied to know that the majority do not have severe mental illness.

     

  8. When should I tell my child that he/she has VCFS?
    This is a very difficult question to answer because the timing of informing affected children is dependent on more than one factor. Age is certainly one factor, as is the child's ability to understand and grasp the significance of the diagnosis. Also important is the reason for telling the child, as well as the manner in which the explanation is offered. For example, even a very young child understands that when they have chicken pox, they get little bumps on their skin that itch a lot. However, they do not understand that chicken pox is caused by the varicella virus, that it may have severe consequences if the infection spreads to the central nervous system, and that as an adult, the disease has different and more severe manifestations. Their understanding of chicken pox is different from that of an adult. therefore, the child should not be told more than they can handle, and explanations need to be put in terms of what they can understand. Such explanations should not be confined to one day, but may need to progress in complexity as the child gets older. The explanations should also be guided at least in part by a qualified genetic counselor. It is most important that the genetic implications and recurrence risks be understood by the time the affected individual is of reproductive age.

     

  9. What are the chances of my having another child with VCFS if I don't have it and my spouse doesn't have it? Should I have my other children tested?
    In the large majority of cases where a child has VCFS but the parents do not, the risk of another child in the family being affected is no greater than the risk for the general population; approximately 1 in 2,000. However, parents may have chromosomal rearrangements, such as a balanced translocation, that could alter that risk. However, this type of rearrangement would likely be discovered once a chromosome analysis (karyotype) was done for the affected child.

     

  10. I have been told that my child has DiGeorge syndrome. Is that the same as VCFS? What about partial DiGeorge? Is that the same as a less severe case of VCFS?
    A well-known clinical geneticist, Dr. M. Michael Cohen, Jr., has often said that geneticists are more likely to share their toothbrushes than their terminology. For a variety of reasons, VCFS is also known by a number of other labels, including DiGeorge sequence, Shprintzen syndrome, Cayler cardiofacial syndrome, 22q deletion syndrome, conotruncal anomalies face syndrome (in Japan), and, unfortunately, CATCH 22. CATCH 22 should certainly be dropped from the list of acceptable labels because it is an attempt at humor (based on the late Joseph Heller's novel and black comedy, CATCH22). In the case of "DiGeorge," the name was applied after Dr. Angelo DiGeorge, an endocrinologist at St. Christopher's Hospital in Philadelphia at the time, described athymia (absence of the thymus gland) and hypoparathyroidism in several newborns. It has since been learned that many of these early cases had VCFS. DiGeorge sequence (not syndrome) is so designated because it represents an etiologically nonspecific grouping of symptoms that have multiple causes. For example, athymia and hypoparathyroidism has been found in babies with fetal alcohol syndrome, individuals with Niikawa-Kuroki syndrome (also known as Kabuki syndrome), and in babies with rearrangements of other chromosomes besides chromosome 22. The DiGeorge sequence is found in a small percentage of babies with VCFS (see the data base at our web site). The majority of children with VCFS do not have DiGeorge sequence. However, the largest number of children with DiGeorge sequence do have VCFS. In fact, all babies with DiGeorge who have deletions at 22q11 have VCFS. The differences in clinical expression of the deletion represents a phenomenon encountered by geneticists all of the time, known as "variable expression." The differences in labels, therefore, sometimes represent different clinical expressions of the same disorder. For an article describing this situation in more detail, see The Name Game, an article from one our past Newsletters that is included on our web site.

     

  11. If VCFS is as common as some people say, why don't I hear more about it?
    As genetic disorders go, VCFS is a relatively recent addition to the pantheon of known syndromes. There is typically a delay between the first publication of a new disorder (in the case of VCFS, 1978) and its wide acceptance into medical practice. In addition, VCFS may not draw the same notice as disorders such as Down syndrome in large part because the children are not very stigmatized physically. Because the diagnosis is more difficult, especially in babies, it may go unnoticed for years. However, there has certainly been a recent surge in interest in VCFS and the progress in its study and recognition over the past 5 or 6 years has been little short of remarkable.