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Williams syndrome

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

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

Causes

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.

Symptoms

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

Exams and Tests

Signs include:

  • Narrowing of some blood vessels
  • Farsightedness
  • Dental problems, such as teeth that are widely spaced
  • High blood calcium level that may cause seizures and rigid muscles
  • High blood pressure
  • Loose joints that may change to stiffness as the person gets older
  • Unusual star-like pattern in iris of the eye

Tests for Williams syndrome include:

  • Blood pressure check
  • Blood test for a missing piece of chromosome 7 (FISH test)
  • Urine and blood tests for calcium level
  • Echocardiography combined with Doppler ultrasound
  • Kidney ultrasound

Treatment

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.

Support Groups

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

Outlook (Prognosis)

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.

Possible Complications

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 to Contact a Medical Professional

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.

Prevention

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.

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.

    • Low nasal bridge

      Low nasal bridge - illustration

      A low or absent nasal bridge can occur in association with infectious diseases or genetic diseases.

      Low nasal bridge

      illustration

    • Chromosomes and DNA

      Chromosomes and DNA - illustration

      Humans typically have 23 pairs of chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.

      Chromosomes and DNA

      illustration

      • Low nasal bridge

        Low nasal bridge - illustration

        A low or absent nasal bridge can occur in association with infectious diseases or genetic diseases.

        Low nasal bridge

        illustration

      • Chromosomes and DNA

        Chromosomes and DNA - illustration

        Humans typically have 23 pairs of chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.

        Chromosomes and DNA

        illustration

      Review Date: 10/3/2019

      Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant 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.

      The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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