PHACE Syndrome

What is PHACE syndrome?
PHACE syndrome is the association of a large hemangioma usually on the face or neck, in combination with one or more other abnormalities. Every infant diagnosed with PHACE syndrome has different medical needs. Some have mild symptoms while other have more severe symptoms. PHACE syndrome is uncommon but may have been misdiagnosed in the past. It affects girls nine times more often than boys.

PHACE is an acronym that refers to a group of abnormal medical findings, and when these occur in combination, the diagnosis of PHACE syndrome is made.

PHACE defined:
Posterior fossa- These are brain malformations that are usually present at birth. These brain malformations do not form after the infant is born.

Hemangioma- The hemangioma usually covers a large area on the skin of the head or neck (greater than 5 cm). The term "segmental" is sometimes used to describe these hemangiomas.

Arterial lesions- The abnormalities of the blood vessels in the neck or head.

Cardiac abnormalities/aortic coarctation- These are abnormalities of the heart or the blood vessels that are attached to the heart.

Eye abnormalities.

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This was the best definition I could find of PHACE. When G was diagnosed we learned she had other problems we weren't aware of. Part of her left side cerebellum in her brain didn't fully develop. This part of your brain is primarily motor control. It contributes to coordination, precision and accurate timing. Obviously, we began to worry about her physical development.

Also, we learned she was born without her carotid artery on her left side (everything deals with the left side of her body.) You know how you can feel your pulse on both sides of your neck? Well, you can't feel G's on her left side because she doesn't have one. She's completely missing her artery. G runs the risk of strokes and seizures because she doesn't have the full blood supply to her brain that the average person has.

We don't know what the future holds. Since PHACE is fairly new to the medical world there's no way to tell what will happen (or what we can expect) in her future. She is closely looked after and monitored by her amazing team of doctors here at UK hospital and still at Cincinnati Children's. Despite all of our worries and concerns, those who know G personally know what a happy, well- adjusted child we have. Meeting her you would never know the medical issues she has. She is so happy and such a joy to be around. Lots of children with PHACE have it much worse than G and I pray for those precious children daily. I also express daily gratitude for the healthy happy baby girl we have. Thank you Gattlyn girl for joining our family! We love you!