Helping Patient Understand: Williams Syndrome and Diagnosis

January 22, 2014

Williams syndrome is a rare genetic disorder caused by the deletion of the long arm of chromosome 7. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder and is present at birth. This region includes the elastin gene and affects approximately one in 10,000 births.

Affecting males and females equally, Williams syndrome is characterized by a wide range of medical problems with the most significant being cardiovascular disease. Medical problems can include hypercalcemia, which is many times present at birth, narrowed arteries causing high blood pressure, kidney problems, chronic ear infections, gastrointestinal issues, thickened organs, optical issues, hernias, rectal prolapse, and urinary tract issues.

Individuals with Williams syndrome also have developmental delays ranging from mild to severe. Delays are typically global and most children are quite delayed in meeting milestones such as crawling, walking, talking and many children have significant feeding difficulties.

Williams syndrome is also associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction. Mild to severe anxiety and Attention Deficit Disorder are also common features of Williams syndrome. No two individuals with Williams syndrome are alike and the degree of severity in characteristics are variable from person to person. It is important to also remember that not all medical problems are present at birth and many occur over time and some may not be realized until adulthood.

Diagnosing Williams Syndrome

Williams syndrome can be confirmed by a blood test, fluorescent in situ hybridization (FISH) or targeted mutation analysis.

Most Common Characteristics

  • Cardiac Issues: supravalvular aortic stenosis, renal artery stenosis, aortic stenosis and pulmonary stenosis
  • Hypertension
  • Gastric reflux
  • Gastroparesis
  • Hypercalcemia
  • Chronic ear infections
  • Hernias
  • Low muscle tone
  • Hyperacusis (sensitive hearing)
  • Strabismus
  • Poor growth
  • Hoarse voice
  • Early puberty
  • Delay in meeting developmental milestones
  • Delays in speech, language and communication
  • Delays in fine and gross motor skills
  • Phobias
  • Excessive worrying
  • Mild to severe anxiety

Individuals with Williams syndrome also have a characteristic facial appearance. The characteristic facial features include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. Individuals with Williams syndrome are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals also have a star-like pattern in the iris of their eyes.

About the Author

Penny Perez is the CEO and Founder of Williams Syndrome Changing Lives Foundation. Her responsibilities include the overall leadership and development of the organization. She reports to, and maintains a seat on the Board of Directors and is the main point of contact for the facilitation of the organizations programs. Her other responsibilities include managing the organization’s financial operating budget, developing relationships locally and nationally, fund raising, creating awareness programs and ultimately facilitating assistance to individuals. She devotes approximately 50 hours a week in her position as CEO.

Penny also serves on the Family Advisory Council for All Children’s Johns Hopkins Hospital in St. Petersburg, Florida. Williams Syndrome Changing Lives Foundation began in August 2012 as a passion and a focus of Ms. Perez. As a parent of a child with Williams syndrome, she recognized and understood the struggles of parents managing the multiple daily medical, therapeutic, behavioral and developmental needs of childrenwith Williams syndrome. Ms. Perez wanted to help relieve some of the financial burden of others experiencing the same difficulties that she had realized with her son, Keith. For her, it was the beginning of Changing Lives.

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