PHACE syndrome

Disease Overview

PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects.[3318] People with PHACE syndrome may have Posterior fossa brain malformations, Hemangioma, Arterial lesions (blood vessel abnormalities in the head or neck), Cardiac (heart) abnormalities/aortic coarctation, and Eye abnormalities.[3318] Symptoms and symptom severity may vary from person to person. The cause of the condition is currently unknown. It affects girls much more often than boys. Treatment is based on the signs and symptoms present in the person.[3318]

Synonyms

• Pascual-Castroviejo syndrome type 2
• PHACE association
• PHACES association
• Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities
• Pascual-Castroviejo type II syndrome
• P-CIIS