The Williams syndrome (also known as the Williams-Beuren syndrome) is a condition that you, like so many other people probably have not heard before. What does it mean? What can we expect? What these children need? These are but a few questions that parents and professionals will deal with a child when the diagnosis is made. This site has some information available, but obviously this is not everything. In some places it is also indicated where further information can be found.
Background:
A syndrome (syn = together) is the medical term for a combination of symptoms to indicate which are to be traced to a common cause. The syndrome was first described by the New Zealand cardiologist Williams in 1961. He had noticed that some children, who because of certain heart diseases were referred to him, by a strong resemblance. His findings were confirmed in 1964 by the German pediatric cardiologist Beuren. Even today, they described the appearance and certain cardiovascular disorders identification key. Infants with Williams-Beuren syndrome often have feeding problems. When toddlers fall slow motor development at school age and concentration difficulties and learning disabilities. The children often have a certain appearance in the direction of the diagnostic methods. When to suspect a child has Williams syndrome, a genetic study may be obtained by (FISH) ascertaining whether it really is. The absence of a piece of chromosome 7 is the cause of the Williams-Beuren syndrome (7q11.23).
In the Netherlands each year approximately 15 children born with this syndrome. It is equally common in boys as in girls. Since 1994 to the Williams syndrome by genetic analysis (with a high degree of certainty) be adopted. For such genetic studies are parents referred to a clinical genetic center. It is also the attending (children’s) medical blood of children and parents sent for this study. Through the blood of the child may be examined whether there is change on chromosome 7. This change is usually not present in the parents. It says that it “arose spontaneously. The probability that this half time (ie in a next pregnancy) happen again, is very low
Tags: Children, The Williams Syndrome, Williams-Beuren Syndrome
