Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank
Brief Summary:
Background:
DNA tells the body how to grow and function. Williams-Beuren syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) are rare diseases caused by changes in a part of a person s DNA. Symptoms of both conditions include vascular problems including narrow blood vessels and supravalvular aortic stenosis (SVAS) or supravalvular pulmonary stenosis. Individuals with WS may also have developmental challenges and personality differences. Researchers at the NIH want to find out why only some people with WS and SVAS have severe symptoms. They want to collect samples and data to see what DNA or environmental changes affect the severity of the disease.
Objective:
To identify the DNA differences or environmental changes that change the severity of WS and SVAS from person to person.
Eligibility:
People ages 0 85 with either WS, SVAS, and/or an SVAS-like condition
Children and people with WS must have a parent or legal guardian to consent or help answer questions.
Design:
Participants will be screened with questions and medical history.
Participants will have a 60-minute visit. They will provide blood or saliva samples.
They or their parent/guardian will:
Answer questions about how WS and SVAS affect them.
Sign a form releasing their medical records for the study.
If participant s regular