Human Body system WS

Normally in the body the blood vessels are elastic and stretch and relax when blood flows through them, allowing the body to have increase or decrease blood flow when needed. This is how the body maintains homeostasis.

Every organ in your entire body would be affected. Blood vessels take blood through your entire body.

Williams Syndrome affects heart function and disrupts homeostasis. Having Williams Syndrome it sometimes blocks off blood flow to the heart and other major organs like your lungs.

Links to info about Williams Syndrome

• http://www.williams-syndrome.org/forparents/whatiswilliams.html


• www.ninds.nih.gov/disorders/williams/williams.htm

Pedigree for Williams Syndrome

Circles-Female
Squares-Males

Williams Syndrome #4

It is extremely unlikely that any other family member also has Williams syndrome. But if someone with Williams syndrome plans to become a parent, there is a 50/50 chance that his or her child will have this syndrome. Williams Syndrome is autosomal dominant.

 Chromosome # 7 is the chromosome that is affected. In Williams syndrome individuals, both the gene for elastin and an enzyme called LIM kinase are delete.

Karyotype-WS

Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are some of the the genes that are normally deleted in people with Williams Syndrome.

Williams Syndrome #3

There is no cure for Williams Syndrome, but there are therapies that can benefit someone with WS. Speech therapy, occupational therapy and physical therapy would be beneficial.

People with WS need regular monitoring for possible medical problems by a physician that knows the syndrome.

It makes no difference if your geneticly screened or not because there is no cure.

Individuals are screened for this genetic disorder when they show signs or if there is family history of this disorder.

Williams Syndrome #2

People with this disorder normally walk at a later age. This is because of the lack of muscle strength, poor coordination and a hard time with balance. Children can have anywhere from average intelligence to severe retardation. In recent studies 55% of children were found to be severely handicapped, 41% were found to be moderately handicapped and 4% of children were average.  

Children with Williams Syndrome also talk later than normal. By 18 months of age they begin speaking single words and sometimes phrases. By the time they reach 4 to 5 years old language can become one of their strengths. Children with WS commonly have difficulty with fine-motor skills or tying shoes.

The life expectancy of someone with Williams Syndrome is normal unless they have a serious heart defect.  In adulthood people with WS have stiffness, weak hips and knees. They also get grey hair early (age 20-30)

WS affects males and females equally and WS occurs in all ethnic groups.

Williams Syndrome can be diagnosed by a blood test. The lab uses a technique called FISH, which looks for an elastin gene one every chromosome #7.