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Williams syndrome is a rare genetic disorder that can lead to problems with development.
Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children. The cause usually occurs randomly.
Williams syndrome occurs in about 1 in 8,000 births.
One of the 25 missing genes is the gene that produces elastin, 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.
Facial appearance that may show:
Tests for Williams syndrome:
There is no cure for Williams syndrome. Avoid taking extra calcium and vitamin D. Treat high levels of blood calcium, if present. Blood vessel narrowing can be a significant health problem and is treated based on its severity.
Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy can also help these children (for example, verbal strengths can help make up for other weaknesses). Other treatments are based on a patient's symptoms.
It can help to have treatment coordinated by a geneticist who is experienced with Williams syndrome.
Williams Syndrome Association -- www.williams-syndrome.org
About 75% of those with Williams syndrome have some intellectual disability.
Most patients will not live as long as normal, due to complications.
Most patients require full-time caregivers and often live in supervised group homes.
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. Gene Reviews [serial online]. University of Washington; Seattle, Wa; June 2013.