PHACE - Prospective Genetic Investigation

PHACE - Prospective Genetic Investigation

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