What is the definition of Williams Syndrome?

Williams syndrome is a rare disorder that can lead to problems with development.

What are the alternative names for Williams Syndrome?

Williams-Beuren syndrome; WBS; Beuren syndrome; 7q11.23 deletion syndrome; Elfin facies syndrome

What are the causes for Williams Syndrome?

Williams syndrome is caused by not having a copy of 25 to 27 genes on chromosome number 7.

  • In most cases, the gene changes (mutations) occur on their own, either in the sperm or egg that a baby develops from.
  • However, once someone carries the genetic change, their children have a 50% chance of inheriting it.

One of the missing genes is the gene that produces elastin. This is a protein that allows blood vessels and other tissues in the body to stretch. It is likely that missing a copy of this gene results in the narrowing of blood vessels, stretchy skin, and flexible joints seen in this condition.

What are the symptoms for Williams Syndrome?

Symptoms of Williams syndrome are:

  • Feeding problems, including colic, reflux, and vomiting
  • Inward bend of the small finger
  • Sunken chest
  • Heart disease or blood vessel problems
  • Developmental delay, mild to moderate intellectual disability, learning disorders
  • Delayed speech that may later turn into strong speaking ability and strong learning by hearing
  • Easily distracted, attention deficit hyperactivity disorder (ADHD)
  • Personality traits including being very friendly, trusting strangers, fearing loud sounds or physical contact, and being interested in music
  • Short, compared to the rest of the person's family

The face and mouth of someone with Williams syndrome may show:

  • A flattened nasal bridge with small upturned nose
  • Long ridges in the skin that run from the nose to the upper lip
  • Prominent lips with an open mouth
  • Skin that covers the inner corner of the eye
  • Partially missing teeth, defective tooth enamel, or small, widely spaced teeth

What are the current treatments for Williams Syndrome?

There is no cure for Williams syndrome. Avoid taking extra calcium and vitamin D. Treat high blood calcium if it occurs. Blood vessel narrowing can be a major health problem. Treatment is based on how severe it is.

Physical therapy is helpful for people with joint stiffness. Developmental and speech therapy can also help. For example, having strong verbal skills can help make up for other weaknesses. Other treatments are based on the person's symptoms.

It can help to have treatment coordinated by a geneticist who is experienced with Williams syndrome.

What are the support groups for Williams Syndrome?

A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams syndrome:

Williams Syndrome Association -- williams-syndrome.org

What is the outlook (prognosis) for Williams Syndrome?

Most people with Williams syndrome:

  • Have some intellectual disability.
  • Will not live as long as normal due to the various medical issues and other possible complications.
  • Require full-time caregivers and often live in supervised group homes.

What are the possible complications for Williams Syndrome?

Complications may include:

  • Calcium deposits in the kidney and other kidney problems
  • Death (in rare cases from anesthesia)
  • Heart failure due to narrowed blood vessels
  • Pain in the abdomen

When should I contact a medical professional for Williams Syndrome?

Many of the symptoms and signs of Williams syndrome may not be obvious at birth. Call your health care provider if your child has features similar to those of Williams syndrome. Seek genetic counseling if you have a family history of Williams syndrome.

How do I prevent Williams Syndrome?

There is no known way to prevent the genetic problem that causes Williams syndrome. Prenatal testing is available for couples with a family history of Williams syndrome who wish to conceive.

Low nasal bridge
Chromosomes and DNA

REFERENCES

Morris CA. Williams syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. University of Washington, Seattle, WA. www.ncbi.nlm.nih.gov/books/NBK1249. Updated March 23, 2017. Accessed November 5, 2019.

NLM Genetics Home Reference website. Williams syndrome. ghr.nlm.nih.gov/condition/williams-syndrome. Updated December 2014. Accessed November 5, 2019.

Clinical Trial
  • Status: Recruiting
  • Participants: 200
  • Start Date: December 6, 2016
Impact of Elastin Mediated Vascular Stiffness on End Organs
Clinical Trial
  • Status: Not yet recruiting
  • Phase: N/A
  • Intervention Type: Biological
  • Participants: 90
  • Start Date: October 2019
Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome