May is Williams Syndrome Awareness Month

What is Williams syndrome?  
‍Williams syndrome, which is also known as Williams-Beuren syndrome, is a neurodevelopmental genetic condition that is present at birth. It typically occurs when a small part of chromosome 7 is spontaneously deleted at the time of conception. It can affect many parts of the body and is associated with an intellectual disability or learning problems, unique personality traits, distinct facial features, and medical concerns, often including cardiovascular problems. It occurs in one out of every 10,000 live births worldwide; over 30,000 Americans have Williams syndrome.    

What are symptoms of Williams syndrome?  
Williams syndrome is associated with a wide spectrum of symptoms that can vary greatly from one individual to another. They can include:

What medical concerns are common in Williams syndrome?
‍Congenital heart defects and cardiovascular problems are very common in this syndrome so it is important that the heart is evaluated and monitored for abnormalities. Sometimes surgery is needed early in life to correct structural anomalies. Other common medical concerns with this syndrome can include:

How is Williams syndrome diagnosed?
Williams syndrome is typically diagnosed when in early childhood or as a baby. If a health care provider suspects Williams syndrome, they will complete a physical exam, and then order a genetic test (e.g. FISH test) for diagnosis.  

Health Maintenance with Williams Syndrome
Since Williams syndrome is commonly associated with a variety of different health concerns, it is important that individuals with this syndrome are being monitored regularly by their healthcare providers. Additional health screenings and tests may be recommended to monitor for conditions that are common with this syndrome. One resource that can be helpful for a healthcare provider is the Health Watch Table for Williams Syndrome.     

Learn more about Williams syndrome:    

PCHC has developed a Health Promotion Activity Plan (HPAP) on Williams Syndrome and more.

• Mild to moderate intellectual disability (ID) and/or learning difficulties
  - Difficulty with visual-spatial tasks
• Distinct facial features such as:
  - Full cheeks  
  - Broad forehead  
  - Flat nasal bridge  
  - Prominent lips  
  - Large ears  
  - Short stature  
  - Star-like pattern of iris (colored part of the eye)
• Unique personality traits such as:
  - Striking verbal abilities, often with advanced vocabulary  
  - Highly social personality
  - Affinity for music

• Ears: hyperacusis (extreme sensitivity to sound), chronic ear infections
  
• Eyes: farsightedness, esotropia, visual-spatial difficulties
  
• Dental abnormalities
• Elevated blood calcium level
• Endocrine: hypothyroidism, diabetes
• Gastrointestinal: constipation, GERD
• Musculoskeletal: abnormal curvature of spine (e.g. scoliosis), joint abnormalities, hypotonia (low muscletone), awkward gait
• Kidney abnormalities, urinary tract infections

• Williams Syndrome Association Fact Sheet: https://williams-syndrome.org/files/inline-files/what_is_ws_0.pdf
• Health Watch Table –Williams Syndrome: http://ddprimarycare.surreyplace.ca/wp-content/uploads/2018/03/HWT_Williams.pdf
• National Organization for Rare Disorders (NORD): https://rarediseases.org/rare-diseases/williams-syndrome/
• NIH- Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome
• Medline Plus:  https://medlineplus.gov/genetics/condition/williams-syndrome/