Vanderbilt University Medical Center
Investigation for potential PHACE syndrome gene.
Subjects with PHACE syndrome diagnosis will undergo a brief physical examination with possible external photographs. Cheek swabs will be sent for genetic analysis. Subjects will be notified of the results.
Inclusion Criteria: * PHACE syndrome diagnosis * Must be willing to have an eye examination * Must be willing to undergo genetic testing Exclusion Criteria: * No PHACE syndrome diagnosis
Diagnostic study only