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.
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:
The face and mouth of someone with Williams syndrome may show:
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.
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
Most people with Williams syndrome:
Complications may include:
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.
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.
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.