Williams Syndrome Overview
Learn About Williams Syndrome
Williams syndrome is a rare disorder that can lead to problems with development.
Williams-Beuren syndrome; WBS; Beuren syndrome; 7q11.23 deletion syndrome; Elfin facies 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 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 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 height, compared to the rest of the person's biologic relatives
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
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 problems. 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.
Beth Kozel is a Medical Genetics specialist and a Pediatrics provider in Marietta, Ohio. Dr. Kozel is rated as an Elite provider by MediFind in the treatment of Williams Syndrome. Her top areas of expertise are Williams Syndrome, Cantu Syndrome, Chromosome 7p Deletion, and Greenberg Dysplasia. Dr. Kozel is currently accepting new patients.
The General Hospital Corporation
Barbara Pober is a Pediatrics specialist and a Medical Genetics provider in Boston, Massachusetts. Dr. Pober is rated as an Elite provider by MediFind in the treatment of Williams Syndrome. Her top areas of expertise are Williams Syndrome, Chromosome 7p Deletion, Snyder-Robinson Syndrome, and Marshall Syndrome. Dr. Pober is currently accepting new patients.
Lucy Osborne practices in Toronto, Canada. Ms. Osborne is rated as an Elite expert by MediFind in the treatment of Williams Syndrome. Her top areas of expertise are Williams Syndrome, Supravalvular Aortic Stenosis, West Syndrome, and Pulmonary Supravalvular Stenosis.
More information and support for people with Williams syndrome and their families can be found at:
Williams Syndrome Association -- williams-syndrome.org
Most people with Williams syndrome:
- Have some intellectual disability.
- May have a shortened lifespan due to the various medical issues and other possible complications.
- Require full-time caregivers and often live with supervision.
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
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.
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.
Objective: 1. To collect historical information and to bank DNA, cells, and tissue from individuals with genetic alterations in the WS/ELN gene region, those with an SVAS -like phenotype and unaffected family members/controls to facilitate future research into the many phenotypes seen in these individuals. 2. Currently, we plan to use the collected samples to identify genetic and environmental factors that c...
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.
Published Date: December 31, 2023
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 C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews. University of Washington, Seattle, WA. www.ncbi.nlm.nih.gov/books/NBK1249/. Updated April 13, 2023. Accessed April 19, 2024.
National Organization for Rare Disorders website. Williams syndrome. rarediseases.org/rare-diseases/williams-syndrome/. Accessed April 19, 2024.