Frequently Asked Questions


Velo-Cardio-Facial Syndrome
Educational Foundation, Inc.

  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

  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

  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?

  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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

Do you have a question about VCFS?   If so,
EMAIL US! and put “FAQ Question” in
the subject line. We’ll try to answer your question and, if is asked
frequently, we’ll post it on the web site.

Thank you for your interest.


Send mail to
[email protected]
questions or comments about this web site.
Copyright © 2004 Velo-Cardio-Facial Syndrome Educational Foundation, Inc.
Last modified: 09/07/05