William's Syndrome

"Extraordinay gifts, unique challenges"

Big image

William's Syndrome affects boys and girls from all walks of life

Welcome to our unique community!

Ever since 16961, Williams Syndrome has been touching the lives of families from all walks of life. Williams Syndrome has a 1 in 10000 chance of affecting someone, regardless of race, gender, or geography. Therefore, everyone with William's Syndrome is unique in their own way.

What is William's Syndrome?

William's Syndrome is a rare chromosomal abnormality that causes developmental and health issues. William's Syndrome does not shorten life expectancy, but its complications may. A genetic mutation causes William's Syndrome, with 26 genes on chromosome 7 being deleted.

Gifts

Symptoms

So, what are the symptoms of William's Syndrome? Well, although everyone is affected differently, common symptoms include:


  • Delayed Speech (May become strong speech/auditory learning later)
  • Developmental Delays
  • Attention Deficit Disorder (ADD)
  • Clinodactyly (inner bend of the small finger)
  • Learning disorders
  • intellectual disability (mild to moderate)
  • sensitive hearing
  • high blood pressure
  • Various Heart Problems (Supravascular Aortic Stenosis, Supravascular Pulmonary Stenosis, Pulmonary Artery Stenosis)
  • Far-sightedness
  • Sunken Chest
  • Short (compared to rest of family)
  • Flattened nasal bridge
  • Small, upturned nose
  • Philtrum (vertical creases from nose to lip)
  • High Blood Calcium Levels (causes seizures and rigid muscles)

Questions?

So your Child has William's Syndrome. As a concerned parent, you have questions. Here are answers to some of the most frequently asked questions:

  • How is William's Syndrome diagnosed?

Williams syndrome can be diagnosed in a number of ways. The most common is referred to as the FISH (fluorescent in situ hybridization) test, which can show the amount of genetic material missing from a gene. Other methods include a blood pressure check, kidney ultrasound, and a echo cardiography combined with a Doppler ultrasound.

  • Is there a cure?

Although there is no cure for William's Syndrome, most symptoms are manageable. This can be done through avoiding calcium, counseling with a heart doctor, special education, developmental therapy, and other individual treatment based on symptoms.

  • What research is occurring?

Currently, scientists are researching the genetic and neurologic origins of William's Syndrome, and the links between specific genes and corresponding characteristics of William's Syndrome.

  • Where Can we get help?

Currently, those affected by William's Syndrome can find help at the William's Syndrome Association, the National Organization for Rare Disorders, and the National Heart, Lung, and Blood Institute.

If we don't have the answer to your question here, go to www.williams-syndrome.org to find out more

Extraordinary Gifts, Unique Challenges

to get involved in the William's Syndrome community, visit the William's Syndrome Association to learn more.