About PHACE Syndrome

Diagnosing PHACE

To diagnose PHACE syndrome, your child will undergo an evaluation from our team of pediatric specialists. If we suspect PHACE, we will run additional tests, which may include a magnetic resonance imaging (MRI) or magnetic resonance angiogram (MRA) of your child’s head, neck, and chest, along with an echocardiogram. These tests can provide important information needed to diagnose certain conditions associated with PHACE syndrome such as abnormal arterial blood vessels and abnormalities of the brain. After seeing all specialists needed to evaluate your child’s symptoms, you will discuss an individual care plan and learn about next steps. PHACE syndrome affects girls six times more often than boys.

PHACE symptoms

Babies with PHACE syndrome can have a wide variety of symptoms. A baby with PHACE almost always has a hemangioma, a large birthmark on their head, neck or face that grows over time. It can break open and become painful. Because different individuals may have different features, the symptoms can vary. Some of the symptoms can include hearing difficulties, problems with enamel or dental roots, problems with vision, growth issues, learning difficulties, headaches, or seizures.

Hemangiomas

About 95% of patients with PHACE syndrome have an infantile hemangioma, a common type of birthmark. Infantile hemangiomas, also called strawberry marks, are unlike other birthmarks in that they grow and change greatly during the first months of life. They are considered benign (non-cancerous) tumors. Generally, infantile hemangiomas are absent or subtle at birth and gradually appear during the first few weeks of life. Most skin hemangiomas are seen by three months of age. During the natural course of a hemangioma, the birthmark reaches a point of maximum growth between one and two years and then begins to shrink and disappear. Rarely, hemangiomas can develop in the internal organs of the body. Having a hemangioma does not mean your baby has PHACE syndrome. But having a certain type of large hemangioma, called a segmental hemangioma can be a sign additional testing should be done to look for features of PHACE syndrome.

Other abnormalities associated with PHACE

Your child may have other possible conditions, including:

  • Abnormal blood vessels of the head and neck. Over 80% of children with PHACE have at least one abnormal artery in their head or neck
  • Abnormal arteries in their chest or brain
  • Structural brain abnormalities, such as Dandy-Walker malformation, also occur in a small percentage of children with PHACE, and some have cognitive delays
  • Neurologic anomalies putting children at risk for seizures, developmental delays, intellectual disabilities, and stroke
  • Congenital heart defect, with coarctation of the aorta (narrowing of the aorta), as the most common heart defect. Heart problems occur in a small group of children with PHACE
  • Abnormalities in the structure of the eye or blood vessels
  • Ventral or midline defects along the ribs and sternum
  • Hearing problems
  • Compressed airway
  • Glandular/endocrine abnormalities