What is Williams and Beuren syndrome ?

It is a genetic disease. A genetic disease corresponds to an alteration of the inheritance hereditary. This anomaly an sometimes be hereditary, which means it can be transmitted from generation to generation. In the Williams’ syndrome’s case, it is most of the time a genetic accident. For most of the cases, there isn’t any family antecedent; it is a disease that appears sporadically. Whatever your origins are, your sex is, you have one chance over 20 000 to have a child with this disease. This is why it is a very rare disease. However it represents 3.000 sick persons in France, and 300.000 in the world. The risk to have a child with the Williams’ syndrome is huge. Finally, the risk for the person that has the syndrome to have a child with the same problem is of 50%.

Is it a serious illness ?

Fortunately, in most of the cases, this disease isn’t mortal! At this day I haven’t found any documents giving statistics about this topic. This disease does not reduce the life expectancy of the sick persons, however I haven’t find any statistics either. There are cases of people with the syndrome have lived a long time. The death of children because of the SW is most of the time due to a cardiac problem. However, in this paragraph we want to think of the parents that have lost their child. Your pain is shared with all of us, and we may never have nice enough words to soften your pain. The enemy has been found, it is a genetic disease, the Williams’ syndrome. It is cruel and unfair; it hurts without any discernment, the weakest and the most innocents. Our fight is in march. We want to ask you to com and join us so as to continue the fight of our children.

What are the symptoms ?

The symptoms of this disease are numerous and vary in intensity from a patient to an other. Most of the patients do not show all the symptoms. This makes harder to find the diagnostic. Some persons even discovered their disease when they were adults.

We give you a list of the principal symptoms. This list is issued from a personal compilation, but essentially inspired from the reference [2]. We also give you some percentages of the manifestation of some of the symptoms. These percentages are taken from reference [1], you’ll find more details in this reference.

• Birth after term
• Weight inferior to the average ( under 3 kilos)
• Cardiovascular complications - lifetime monitoring. 80%
• Hernias – they need to be operated since they can be complications. It is necessary to call your doctor in that case. 40%
• Difficulties to feed, especially when they are babies. 70%
• Difficulties to sleep, since the birth. The baby/child cries a lot, is nervous, end often wakes up.
• Face features: small and rolled up nose, large mouth, thick lips, prominent cheeks; the iris can sometimes be in star figure. As the child grows, these features get clearer. The face lengthened.
• The growth is slow during youth. Adult, the size and weight is inferior to the average.
• “Hypotonia”-lack of tonicity- this can eventually be responsible for a delay to learn to walk, this can lead to a “hypertonia”-too much tonicity- moderated. They may have troubles finding their balance.
• “Hypercalcemy”. It is one of the reasons why they have big difficulties feeding themselves, and vomiting. This generally disappears around 2 years old. 15%
• Several otitis50%
• Strabismus
• Teeth problems - small teeth, spaced. 95%
• Precocious puberty.
• Delay in intellectual developing95%
• Contrast between the verbal capacities ( that seem normal) and the drawing capacities ( very reduced). They express themselves very well, with a lot of clearness and eloquence.
• They are very good musicians , and they like this field a lot.
• They have a nice contact. They are persons that are very nice, obliging, smilly. For example a scientist described a child with the SW with these words”…they act with people as if there was a social magnet between them…”
• Delay in the intellectual development.

Origins of the syndrome ?

We are all made of cells. At the center of the cells, there is a kernel, which contains long filaments of DNA. The DNA codes our hereditary inheritance, which means our morphological specificities… There are 46 long filaments of DNA that corresponds to our chromosomes. All the chromosomes go by two, each of them have numbers that go with their functions and aspects (2 chromosomes number 1…)
In the Williams’ syndrome, a little bit of DNA is lacking on one of the two chromosomes 7. This lacking part contains several important genes like “Elastine” that is useful for the walls of the vessels like the aorta. The lost of one copy (one of the two chromosomes) of this gene is responsible for the cardiac problems of the children that have the syndrome. The other symptoms of the disease are probably due to a loss of other genes next to the “elastine” gene.

Diagnosis

The diagnosis of the disease can be done with a geneticist. After taking blood samplings, and after a month of analysis, the result will be given to you. The principle is based on the method called “FISH”.
It is a method that s often used in genetic research. In the William’s syndrome, several genes are missing in one of two copies of your chromosome 7.
Especially the gene of the protein “elastine” is missing. This gene is copied and marked with a fluorescent dyeing. This unit plays the role of probe. After the probe had been added to the DNA of your sample blood, an increase in heat makes it possible to duplicate in two bits.
If the sequence of the DNA of probe (ELN) corresponds to a sequence complementary to your DNA, then the probe will be paired with your DNA, and the unit will arise definitely fluorescent under a microscope. If two fluorescent spots are observed, corresponding to two genes of your two copies of DNA, you do not have the SW. On the other hand, if it is observed that there is only one fluorescent spot, this means that one copy of the ELN gene is missing, and thus you are SW. This diagnosis is easy to undertake and reliable.