VELOCARDIOFACIAL
SYNDROME
The
name Velocardiofacial Syndrome comes from the Latin words "velum"
meaning palate, "cardio"
meaning heart, and "facies"
having to do with
the face thus incorporating the most common features of cleft palate,
heart defects, and a characteristic facial appearance.
Unfortunately the testing for this syndrome has only been available
since 1994 and the variability in the presentation of children with
this syndrome means that they are often overlooked by professionals. A
diagnosis is usually made by a clinical geneticist based on the
clinical presentation of the person and the genetic testing for the
deletion. A "syndrome" means a
pattern of features occurring together.
People with VCFS usually present with a few or many of the following
features:
Congenital heart
defects, Mental
illness, Palate and throat
problems, Feeding and speech
problems, Nasal speech, Facial features including
almond-shaped eyes,
slender nose with bulbous
nasal tip, small mouth, Hyperparathyroidism-low
calcium & high phosphate levels, Seizures, Absent or small thymus
gland, Dental issues,
Immune deficiency, Hearing problems, Learning difficulties
-mild to severe, Developmental
delay, Low muscle tone, Gastric reflux and regurgitation when young
Research shows that there are 188 possible anomalies associated with
VCFS.
ORAL
ISSUES:
Children affected with a 22q11.2 deletion may
display certain dental
characteristics such as higher number of cavities or poor quality
teeth, which may decay quickly. Gastric reflux can contribute to the
deterioration of the teeth.
There are 2 main diseases, which are preventable - Gum Disease and
Tooth Decay. By preventing these diseases needless suffering and threat
to general health is avoided.
Children with a 22q11.2 deletion can be more prone to disease because
of:
• Poor quality teeth that may decay more easily;
• Difficulty with feeding - i.e. eating smaller amounts but more
frequently; Gastric reflux.
Many children with the deletion also require medication and/or calorie
supplements and some of these have a high sugar content. This magnifies
the need for dental care to protect the teeth and encourage good
long-term oral hygiene habits.
For children with heart defects, decayed teeth or inflamed gums also
increases the risk of getting a disease of the heart called "infective
endocarditis" which is an infection of the inner lining of the
heart.
You can visit www.vcfsfa.org.au for more
information regarding VCFS.
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