Clinical Research Directory

* INCLUSION CRITERIA: We will recruit individuals with people with WS, SVAS or other WS region variation conditions (cases) and demographically similar control (unaffected) participants. Children or adults with WS must: * be between the ages of 3 and 85 * have a presumed or confirmed diagnosis of WS (genetic testing is not performed in this research study). * have a parent/guardian available to provide consent and assist in answering medical questions * not be pregnant Children or adults with SVAS must: * be between the ages of 3 and 85 * have clinical features suggestive of SVAS or an SVAS-like condition OR have no clinical features of SVAS or an SVAS-like condition but have genetic testing results that imply affected status (SVAS has decreased penetrance). No genetic testing will be done as part of this protocol. * have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults) Children or adults with WS region gene changes: * be between the ages of 3 and 85 * have clinical or research genetic testing that reports gene variation in a non-ELN gene in the WS region. * have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor or if they have cognitive impairment that would impede their ability to consent on their own behalf. Children or adults participating in the study as part of control group must: * be between the ages of 3 and 85 * not have clinical features or genetic profile suggestive of WS, SVAS or an SVAS-like condition. No genetic testing will be performed in this research study. * have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults)