Learn About Williams Syndrome

What is the definition of Williams Syndrome?

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

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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 of 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 of 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
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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.

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What are the support groups for Williams Syndrome?

More information and support for people with Williams syndrome and their families can be found at:

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 of 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. Contact 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
What are the latest Williams Syndrome Clinical Trials?
Defining the Brain Phenotype of Children With Williams Syndrome

Background: - Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with Williams syndrome change during this period. Genetic features of Williams syndrome affect the brain s development, but the details of this process have not been studied over time. Researchers are interested in using magnetic resonance imaging to study how ...

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Impact of Elastin Mediated Vascular Stiffness on End Organs

Background: People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness. Blood vessels may have focal narrowings called stenoses or may just be globally more narrow.

What are the Latest Advances for Williams Syndrome?
Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review.
Midaortic syndrome and renovascular hypertension.
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Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report.
Who are the sources who wrote this article ?

Published Date: November 01, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Bockenhauer D. Fluid, electrolyte, and acid-base disorders in children. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 73.

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.

National Organization for Rare Disorders website. Williams syndrome. rarediseases.org/rare-diseases/williams-syndrome/. Accessed December 27, 2021.