PHACE Syndrome

PHACE was recognized as a condition relatively recently. PHACE (sometimes also called PHACE association, PHACES syndrome, PHACES association or Pascual-Castroviejo type II syndrome) is an associated collection of disorders characterized by a large infantile hemangioma (benign tumor, presenting as a strawberry mark) on a child's face, scalp and neck, together with a combination of defects in the brain, blood vessels, eyes, heart and chest.

The cause of PHACE is unknown, and the condition is uncommon. Its name is an acronym describing the collection of anomalies that together comprise the condition:

  • Posterior fossa: congenital brain malformations, most commonly affecting the back of the brain, such as Dandy-Walker cysts
  • Hemangioma: a benign vascular tumor or anomaly that, in children with PHACE, usually appears as a red birthmark on the face, scalp or neck
  • Arterial lesions: abnormal arteries, usually in the head or neck
  • Cardiac abnormalities or Coarctation of the aorta: congenital defects in the heart and its major blood vessels
  • Eye or Endocrine abnormalities

Some people also add an S to the end of the condition's name, referring to abnormalities in the sternum (the breastbone) seen in some children with PHACE.

Every child diagnosed with PHACE has a different combination of anomalies and symptoms. As such, the care of every child with PHACE is highly personalized and may require the expertise of clinicians and specialists from several medical fields.

How Boston Children's Hospital approaches PHACE syndrome

The Vascular Anomalies Center's (VAC) interdisciplinary team of clinicians cares for children with PHACE syndrome who come to Boston Children's Hospital. The VAC's 25 physicians—representing 16 medical and surgical specialties—are experts in the field of vascular anomalies.

Specialists from multiple disciplines come together to care for every child seen at the VAC clinic. It's not uncommon for children on their first visit to the clinic to be evaluated by a whole team at the same time. From there, the team works with you to develop and carry out a comprehensive and coordinated care plan that matches your child's specific needs, bringing in the expertise of other Boston Children's departments and services as necessary to provide your child with the best care.