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More than 180 anomalies (symptoms) are associated with VCFS. The following are the more common ones:
• palate abnormalities such as sub-mucous cleft palate
• feeding problems during infancy such as nasal regurgitation
• speech difficulties and language delays
• serious heart defects including
º Tetralogy of Fallot
º ventricular septal defect
º pulmonic stenosis
• similar facial appearance characterised by the following
º elongated face
º almond-shaped eyes
º small ears
º prominent nasal bridge and tip
º an abundance of scalp hair
• suppressed immune system
• long, tapered fingers
• spinal, muscular, orthopaedic and skeletal abnormalities including
º hypotonia
º leg and foot pains.
• learning differences and difficulties including ADD
• psychiatric problems and behavioural problems.
These are just a few of the anomalies associated with VCFS. You can find the complete list of the known symptoms at the VCFS Education Foundation Web site under "general information about VCFS".
> back to FAQs
Some individuals have a few anomalie; some have many. No individual with VCFS has all 180.
Most individuals with VCFS have multiple anomales that appear at different stages in their lives with varying degree of severity. The following are anomlies that appear at different ages:
• infancy
º congenital heart defects
º problems with feeding
º immunodeficiency
• childhood
º learning difficulties
º speech and language impairment
º leg pains
• adolescence
º behavioural issues
º depression.
In other cases, anomalies can be ‘silent’; they do not have outward symptoms. For example, structural kidney anomalies may not cause outward clinical problems, but they are discovered by chance during an x-ray procedure for another issue.
It is important for you to know the full range of possible anomalies associated with VCFS so that you may share this information with your doctors. Visit the VCFSEF Web site for the fact sheet of anomalies.
When should I suspect that my child might have VCFS?
Expression of the syndrome is highly variable:
• Not everyone has the same combination of anomalies
• Anomalies vary in their severity and degree to which they cause difficulty.
• Some anomalies are apparent at birth; others show up later in a person's life.
Each anomaly occurs in isolation of each other and in other syndromes.
You should consider the possibility that your child has VCFS if two or more of these anomalies occur together.
Visit the VCFS Education Foundation Web site where you can find the complete list of the known anomalies (under "general information about VCFS").
Whom should I contact if I think my child has VCFS?
See your general practitioner (GP) to get a referral for a clinical geneticist. Not all GPs are aware of VCFS, so download information about VCFS, including the list of anomalies associated with the syndrome.
How can a doctor detect if my child has VCFS?
The FISH test with detect whether there is a deletion on chromosome 22:
Fluorescence
In
Situ
Hybridisation.
My child has DiGeorge syndrome. Is that the same as VCFS?
The DiGeorge sequence is found in a small percentage of babies with VCFS. The following comination defines the diGeorge sequence:
• thymic aplasia
• hypoparathyroidism
• immune disorders
• hypocalcaemia
• heart anomalies.
Many syndromes have the DiGeorge sequence:
• velo-cardio-facial syndrome
• foetal alcohol syndrome
• deletion of the short arm of chromosome 10.
VCFS is caused only by the 22q11 deletion. If your child has DiGeorge sequence but not the 22q11 deletion, another genetic or chromosomal syndrome is the cause.
For a more detailed explanation on the naming of VCFS, read The Name Game by Dr Bob Shprintzen.
Children who have a severe heart abnormality are often short, but they usually catch up after definitive repair.
Because infants with VCFS can be shorter than normal, their weight may be low. Poor circulation from heart anomalies can lead to reduced linear growth. These children do not eat as much as others because they do not need the calories to maintain growth velocity. Eating more will not make them taller, but make their vomiting worse.
If you have more questions on the topic of growth, weight gain, and feeding in children with VCFS, chapter five in Velo-Cardio-Facial Syndrome, Volume 1 by doctors Robert Shprintzen and Dr Karen Golding-Kushner addresses the topic in greater detail.
Children with VCFS have their own developmental profile that differs from that of other children. For example, the average age of walking is about 15 months.
Developmental delay is a common but variable symptom with VCFS. Some children show almost no early problems, while others are more delayed.
Many factors hinder motor skills development:
• generalised hypotonia (low muscle tone)
• congenital heart disease
• multiple hospitalisations and operations
• chronic illness.
Spurts in motor skills development narrow the gap between children with VCFS and their peers, especially around the age of four. By the time they enter school, children with VCFS perform close to the normal range in motor skills development.
Children with VCFS may be a little clumsier than their peers due to hypertonia, but severe motor impairment is rare.
Speech and language milestones tend to be slightly delayed, with the onset of the first word at 19 months. As with motor skills, children experience spurts in speech and language development.
What kind of challenges might my child face in the classroom?
All individuals with VCFS have shown some learning disability or difference. As children, they display obvious learning difficulties by the age of seven or eight.
IQ scores tend to drop between seven and 10 years of age, but this does not represent a loss of intellect. Many tests, expecialy the Wechsler scales, are heavily depedent on language-medited prolem solving.
Children with VCFS learn how to recognise letters and sound out words early on. As they get older, they struggle with reading comprehension as the texts get longer.
Children with VCFS struggle with abstraction and problem solving, which interferes with abstract logic and formal reasoning.
Concepts are difficult to grasp (e.g. opposite, reverse). When helping your child, break things down into the smallest concrete units and use lot of repetition.
When should I tell my child about VCFS?
When you should tell your child about having the syndrome depends on several factors:
• age
• your child's ability to understand the diagnosis
• the manner in which the explanation is given
• the reason for telling your child about VCFS and the diagnosis.
Do not try to explain VCFS in one sitting. Allow your explanations to progress in complexity as your child gets older.
An individual with VCFS should understand the genetic implications and recurrence risks by the time they are of reproductive age.
Consider consulting your genetic counsellor for guidance when discussing VCFS with your child.
If neither parent has VCFS, the risk of having another child with VCFS is no greater than the risk for the general population.
If the parents have a chromosomal rearrangement, this could affect their chances of having another child with VCFS. Rearrangements can be discovered once a chromosome analsys is done for the affected child.
VCFS is not as well known as other syndromes for several reasons:
• VCFS is a relatively recent addition to the group of known genetic disorders (1978).
• After the publication in medical journals, it takes a while for the new disorder to be accepted in medical practice, even longer for the general public to learn of it.
• VCFS does not draw as much attention as Down syndrome because the children with VCFS are not as stigmatised physically.
• VCFS may go undiagnosed for years in some individuals because of the difficulty in diagnosis.
Continuing study of VCFS, hard work by VCFS groups worldwide, and recent media coverage have helped to generate more interest in and recognition of VCFS.
The VCFS Foundation of Queensland's FAQs page was adapted for online reading from the VCFSEF Web site: www.vcfsef.org/
If you still have a question about VCFS, email us with "VCFS Question" in the subject line, and we will answer your question in a timely manner.
> back to FAQs
Last updated
10-Sep-2009
Copyright © 2008 Velo Cardio Facial Syndrome Educational Foundation Inc.
International Rare Disease Day
28 February 2010
Family Day pool party
7 March 2010
12 to 4
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