Williams syndrome is a genetic disorder that affects one in 10,000 children. It can distort appearance, growth, and development. If someone close to you -- a friend or a family member -- has been diagnosed, you may want to continue reading; there could be some pointers for future reference. For now, let's get to the basics...
Williams syndrome is typically identified as a chromosomal abnormality; it can occur when a break in chromosome 7 occurs from a developing sex cell. In some circumstances, it can also be passed down to offspring from a parent who has the disorder. Nonetheless, the result is a child born with Williams.
For the most part, Williams patients typically have identical features: heart defects, kidney problems, shorter stature and lower weight, low birth weight, low muscle, and an intellectual disability. Another common feature is behavior; most having an "outgoing personality." But what really takes the cake are facial features: small, curved nose; wide mouth; spaced teeth; and unique eyes (occasionally).
There are several ways to determine if a patient has Williams. Typically, facial features (see "Symptoms") are a key to the diagnosis. But for a more in-depth look, doctors use FISH -- DNA being observed under ultraviolet light. It is here where they can detect the break in chromosome 7 (see "The Cause").
Sadly, there is no cure nor prevention of the disorder. Those with Williams, however, are screened for following defects. (Heart, kidney, etc.) Doctors around the world are still discovering more about the defect each passing minute; among them Julie R. Korenberg.
If you wish for more help and information, the Williams Syndrome Association can support you with more. The foundation is supportive of families with Williams and can give you a more in-depth look. Click here if you wish to visit the site.
Wrapping it Up...
Hopefully, my little guide helped you with your research. As suggested, you can always visit the Williams Syndrome Association for help. And if you are worried of Williams in your family, don't be afraid to call for medical help. Nonetheless, I hope you manage and, in the end, successfully accept...
The Williams Syndrome Association can help you with current concerns of the disorder.
Doctor Julie R. Korenberg.
A child with Williams. Do notice the facial features -- a common attribute to the disorder.
A small nose, big lips, and a broad forehead are typical attributes.
Sometimes, doctors use FISH to detect Williams.
Williams can be caused by a break in chromosome 7 in a developing sex cell.