PHACE Syndrome

What is PHACE syndrome?

PHACE syndrome is a rare condition that affects multiple parts of your child’s body, including their skin, brain, heart, major arteries and eyes. A sign of PHACE syndrome is the presence of hemangiomas, which are noncancerous (benign) skin growths made up of blood vessels, usually on your child’s face and neck.

What does PHACE stand for?

PHACE is an acronym that describes growth and development abnormalities of the following parts of your child’s body:

• Posterior fossa: Part of the brain, specifically a small area in the back of your child’s skull near their brainstem and their cerebellum.
• Hemangioma of the cervicofacial region: A red to purple skin growth of blood vessels on your child’s face and neck.
• Arteries: Pathways in your child’s circulatory system made up of blood vessels that transport oxygen-rich blood from their heart to all parts of their body. Specifically, this affects their major cerebral or cervical arteries.
• Cardiovascular: The heart, specifically the aortic arch, or the top part of the major artery that carries blood away from your child’s heart.
• Eyes: The back section of your child’s eyes (posterior) that includes the retina, choroid and optic nerve, as well as the front section of their eyes (anterior) like the cornea, iris and lens.

PHACE syndrome is sometimes called PHACES syndrome, with the “s” identifying sternal clefting (missing or underdeveloped sternum) or other growth abnormalities of the middle section (trunk) of your child’s body. The sternum is a bone in the center of your chest wall.

Additional locations of growth abnormalities include the ectopia cordis, an area of your child’s heart not covered by their breastbone. This causes their heart to look like it’s outside of their chest. Another issue, abdominal clefting (gastroschisis), occurs when the fetus’s abdominal wall doesn’t close in the uterus.

Who does PHACE syndrome affect?

PHACE syndrome is rare and research is ongoing to learn more about who it affects. As research suggests it might have a genetic cause, there’s a risk that it can affect any child due to random or sporadic changes that happen to a fetus’s DNA during conception. The condition is more common among girls or children assigned female at birth rather than boys or children assigned male at birth.

Is PHACE syndrome fatal?

Each child diagnosed with PHACE syndrome has symptoms that can range from mild to severe. As it can affect your child’s vital organs, it can be fatal for infants with severe symptoms. Sometimes, it can lead to a shortened life expectancy if there are complications that affect their brain, major arteries or heart.

What are the symptoms of PHACE syndrome?

Symptoms of PHACE syndrome can range in severity and vary from person to person. Your child’s symptoms may include:

• Hemangiomas: Hemangiomas look like red to purple or blue birthmarks. They’re overgrowths of blood vessels that are usually on your baby’s face and neck. These may be present at birth or they can appear weeks to months after your baby is born. While hemangiomas are common on infants, a healthcare provider may suspect PHACE syndrome if hemangiomas are larger than 5 centimeters in diameter. Most hemangiomas only affect the skin, but some can target your baby’s internal organs and cause vision or hearing loss.
• Brain: In the back of your baby’s brain is the posterior fossa. It contains the cerebellum, pons and medulla oblongata. This part of your child’s brain may not develop as it should and can cause trouble with balance and coordination, problems with cognitive development (intellectual disability) and behavior, and involuntary movements.
• Heart: The aortic arch, or the upper exit pathway of the heart, may not develop as it should and be narrow. This can cause abnormal blood flow through your child’s body and lead to difficulty breathing, muscle weakness, high blood pressure, irritability and sweating. Your baby may have a hole in their heart (ventricular septal defect) if it didn’t develop completely.
• Arteries: Your baby’s arteries may be narrow. Narrow arteries can prevent blood flow to your child’s brain. This can cause an aneurysm, seizures, a stroke or the loss of feeling in one side of your baby’s body.
• Eyes: Eye symptoms are the result of growth abnormalities where parts of your child’s eyes didn’t form in the uterus. This could include poor vision or vision loss, abnormally small eyes, uncontrollable eye movements or drooping eyes.
• Sternum: Your child may have a missing or underdeveloped sternum, which is their breastbone. Your baby may have grooves, indentations, pits or bumps where their sternum didn’t form as expected.

Additional symptoms may include:

• Speech and language delays.
• Trouble feeding or swallowing.
• Migraines.
• Dental problems.
• Endocrine system abnormalities like a lack of hormone production.
• Poor growth.
• Underdeveloped reproductive organs.

What causes PHACE syndrome?

The cause of PHACE syndrome is unknown. Research is ongoing to learn more about the condition. Studies suggest there could be a genetic and environmental cause. The exact genetic mutation isn’t well understood. Some providers believe that a random (de novo) gene change happens at conception. Mosaicism is the name for this change that only affects some cells rather than all cells. It can lead to symptoms of PHACE syndrome.

How is PHACE syndrome diagnosed?

A healthcare provider will diagnose PHACE syndrome after a physical exam and testing. Medical experts put together diagnostic criteria or guidelines that lead to a PHACE syndrome diagnosis. First, your child’s provider will look for the presence of a hemangioma on your baby’s body. Then, they’ll use imaging tests or other tests to get a closer look at your child’s:

• Brain.
• Heart.
• Arteries.
• Eyes.

Your child’s provider may offer additional tests to make a diagnosis, including:

• An eye exam.
• A hearing test.
• An echocardiogram.
• An ultrasound.
• A CT scan.
• An MRI.

How is PHACE syndrome treated?

Treatment of PHACE syndrome focuses on preventing life-threatening complications and helping your child manage their symptoms. Treatment is different for each person diagnosed with the condition based on how it affects their organs or specific parts of their body. Treatment could include:

• Surgery.
• Taking medications.
• Laser therapy for hemangiomas.
• Wearing supportive devices for hearing loss or wearing glasses for vision loss.
• Learning support in school (special education).

Many families speak with a genetic counselor to learn more about treatment options for their child and how to support them as they grow.

Who will be on my child’s care team to treat PHACE syndrome?

Your child’s care team may include providers with different specialties to help them manage their symptoms, like:

• A dermatologist.
• An ophthalmologist.
• A neurologist.
• A cardiologist.

How can I prevent PHACE syndrome?

There’s no way to prevent PHACE syndrome. The cause isn’t well understood, which means you can’t reduce your risk of having a child diagnosed with this condition. If you want to learn more about the possibility of having a child with a genetic condition, talk to your healthcare provider about genetic testing.

What can I expect if my child has PHACE syndrome?

PHACE syndrome can affect many different parts of your child’s body. There’s no cure for the condition, but research is ongoing to learn more about how providers can help your child manage their diagnosis.

Your child will need regular checkups with their primary care provider and specialists to make sure their symptoms aren’t affecting their quality of life.

While this condition affects your child, it can also affect you and your family. Some people find support and comfort in speaking with a mental health professional.

What is the life expectancy for a person diagnosed with PHACE syndrome?

Your child’s life expectancy with PHACE syndrome varies based on the severity of their symptoms and which organs the condition affects. Children diagnosed with severe brain and heart symptoms are more likely to have a short life expectancy. If your child has mild symptoms, they may have an average lifespan.

When should I see my child’s healthcare provider?

Visit your child’s healthcare provider if they:

• Have trouble eating.
• Miss developmental milestones for their age.
• Don’t respond to things visually or have trouble hearing.

When should I take my child to the ER?

Visit the emergency room or call 911 immediately if your child:

• Shows signs of a stroke.
• Has a seizure.
• Has trouble breathing.
• Has an irregular heartbeat.

What questions should I ask my child’s doctor?

• Does my child need surgery?
• Is there a treatment to make my child’s hemangioma go away?
• Are there side effects to the treatment?
• What’s my child’s life expectancy?

A note from Cleveland Clinic

It may be overwhelming to learn that your child has a rare condition and that there’s not much known about its cause. This can have an emotional effect on you and your family. While some children survive well into adulthood, others may have severe symptoms that could lead to a short life expectancy. You and your family may find comfort in joining a support group or speaking with a genetic counselor or mental health professional.