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 others 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. When these occur together, doctors can diagnose PHACE syndrome.

PHACE defined:

• Posterior fossa: Brain malformations that are present at birth
• Hemangioma: This 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: Abnormalities of the blood vessels in the neck or head
• Cardiac abnormalities/aortic coarctation: Abnormalities of the heart or the blood vessels that are attached to the heart
• Eye abnormalities

PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other abnormalities. When diagnosing PHACE syndrome, doctors often use the criteria listed in the accordions below.

People with PHACE syndrome typically have a facial hemangioma that is larger than 5 cm in diameter in addition to one major criterion or two minor criteria.

Many of these are criteria include medical terms that most of us have never heard of, and therefore you may have questions about what they mean and whether your child is affected. For more detailed information about PHACE syndrome diagnostic criteria, talk with your doctor or contact Beth Anne Bongert, RN, BSN, by phone at (414) 266-3727 or via email at pedsdermresearch@mcw.edu.

P

My name is Grace and I'm from Lincoln, NE.
Kids like me who were born with PHACE Syndrome can have many different problems in different parts of their bodies. Each letter in P.H.A.C.E.S. stands for a different problem often found in this disease. I want to tell you a bit about the P in PHACE. P stands for Posterior fossa, which is the back part of the brain with the brainstem and cerebellum. I was born with a problem in how my brainstem grew as well as a cyst in that part of my brain. These problems affect my development and coordination, so I like coming to see the doctors at Children's Wisconsin who know a lot about PHACE Syndrome.

My PHACE looks like this:
P - I have problems with how my posterior fossa grew
H - I have a hemangioma on the right side of my head
A - I have arteries that don't work right because they are too small and not properly formed
C - My heart and some of the major arteries connected to it did not grow normally
E - I have vision problems because my eye did not form correctly
S

H

I'm London and I live in Wisconsin!
The most common thing you see in kids like me who have PHACE Syndrome is a big birthmark called a hemangioma on our heads and necks. That's what the H stands for in PHACE. When I was born, I had a hemangioma on my forehead, cheek, nose, and mouth. It started to grow, so my parents took me to Children's Wisconsin because the doctors knew how to help make sure my vision and breathing weren't harmed by getting me medication that helped keep the birthmark from growing too much. You can still see where my hemangioma was, but with my treatment helping to make it go away, I can see and breathe just fine!

My PHACE looks like this:
P
H - I have a hemangioma on my face and back
A - Many of the arteries in my neck did not grow properly
C - Parts of my heart grew in the wrong places
E
S

A

Hi, I'm EmmaLeigh from Bedford, IA.
Almost 75% of kids like me who have PHACE Syndrome have problems with the development of the arteries that carry blood from the heart up to the head and neck. The third letter in PHACE — the A — stands for Arteries. I have many arteries that grew either too big, too small, or grew in the wrong places. Doctors were able to fix some of the blood vessels that were pressing against my esophagus, the part of my throat I use to breathe and eat. My parents and my doctors are careful to make sure that my funny arteries don't give me any problems in the way I live and play by checking me with a special MRI designed for kids with PHACE.

My PHACE looks like this:
P - part of my posterior fossa is smaller than usual
H - I have a hemangioma on the right side of my head
A - Many of the arteries that carry blood to my brain are small or not developed correctly
C - Some of the blood vessels around my heart formed in the wrong places or grew incorrectly
E
S

C

My name is Eleanore and I live in De Pere, WI.
PHACE Syndrome can also cause kids like me to be born with problems with our hearts so that we need surgeries when we are very little! The C in PHACE stands for Cardiac problems, which means there are things wrong with development of the heart. When I was 2 years old I came to Children's Wisconsin to have a surgery on the big artery that comes out of my heart. I have two big scars from the surgery, but I'm feeling much better!

My PHACE looks like this:
P
H -I have a hemangioma on many places on my face and around my eye, on the side of my face and in my ear, and on my scalp and neck, too
A - On my neck, the artery on the right side is formed funny and doesn't work well
C - The big artery coming out of my heart did not grow properly and I needed surgery to help it out
E
S

E

Hello! I'm Elyse and I am from Chicago, IL.
Though not as common as some of the other problems seen in PHACE Syndrome, a few of us have problems with our eyes. The E in PHACE stands for Eye problems. One of my eyes has an optic nerve that is smaller than it should be. Because of this, I can't see properly out of that eye.

My PHACE looks like this:
P
H - My hemangioma covers my forehead and chin and I also have some inside my body, like on my stomach and spine
A - I have arteries that grew more twisty than normal
C - Some of the arteries coming out of my heart grew bulges and thin spots
E - One of my eyes is not formed correctly
S

S

I'm Lily and I live in Baden, PA!
The final letter in the PHACE Syndrome acronym is S which stands for problems with the Sternum. Some kids with PHACE Syndrome have sternal defects, which means the bone in the middle of your chest did not form correctly. Sometimes there are openings in the bone and sometimes there is scarring of the skin over the middle of the chest. I was born with a bump on my sternum bone which looks like a scar in the front of my chest. I travel to Milwaukee each year to have the doctors at Children's Wisconsin check how I'm doing.

My PHACE looks like this:
P
H - I have a hemangioma on my lower face and upper chest
A - Many of the arteries in my neck did not grow properly
C - parts of my heart grew in the wrong places
E
S - I have a scar on my chest where my sternum grew differently than normal

Purpose of the PHACE Syndrome study:

The study is focused on two things:

• Learn about what problems PHACE Syndrome causes to track how it affects patients over time
• Study the genetic makeup of patients with PHACE Syndrome to determine why it occurs and how to improve treatment

Those eligible for participation are people who have been diagnosed with definite or possible 

To learn more about this research effort, ask questions of the study learn or to request enrollment, please contact us:

Dawn Siegel, MD
Email: phaceregistry@stanford.edu
Phone: (650) 497-6397

• Complete Stanford Medicine's contact form.

More info can be found: https://www.phacesyndromecommunity.org/research

The PHACE registry has moved to Stanford University School of Medicine.

• Children's Wisconsin Dermatology Program
• Children's Wisconsin Birthmarks and Vascular Anomalies Program

PHACES Foundation of Canada

This Canadian charity organization is committed to advocating, educating and supporting PHACES Syndrome throughout Canada and internationally.

NOVA

The National Organization of Vascular Anomalies provides information and assistance in the management of hemangiomas and vascular malformations, including PHACE Syndrome.

PeDRA

The Pediatric Dermatology Research Alliance aims to form a solid foundation for pediatric dermatology research.

HIG

The Hemangioma Investigator Group is dedicated to advancing knowledge regarding infantile hemangiomas through collaboration, research and education.

PHACE Syndrome Community

The PHACE Syndrome Community is a United States non-profit dedicated to serving those affected with PHACE and their family, friends and community.