PHACE Syndrome

What is PHACE syndrome?

PHACE syndrome is a rare condition that can affect multiple parts of your child’s body, including their skin, brain, heart, major arteries and eyes. It’s a congenital condition, meaning your child is born with it.

It’s very rare for a child to develop abnormalities in every category. Most children show some — but not all — of the signs listed below. The most common types of abnormalities in children with PHACE syndrome include hemangiomas, cerebrovascular defects (which affect blood flow in the brain) and heart defects. These abnormalities may be apparent during your pregnancy, your child’s birth or infancy.

PHACE is an acronym. It describes specific developmental abnormalities associated with this syndrome:

• Posterior fossa: This is a small space in the back of your baby’s brain responsible for things like balance, coordination and breathing. Children with PHACE syndrome have congenital brain malformations in this area.
• Hemangioma: This is a noncancerous growth made of blood vessels that usually appears as a discolored birthmark on your child’s face, neck or scalp.
• Arterial abnormalities: These are congenital defects that affect your child’s arteries, usually in their head or neck. This can reduce blood flow to your child’s brain or to the rest of their body.
• Cardiac abnormalities: This includes heart and vascular abnormalities, like a narrowed aorta, which can cause high blood pressure and blood flow issues.
• Eye abnormalities: These may lead to poor vision or vision loss.
• Sternal clefting*: These are breastbone malformations, which can lead to shortness of breath, chest pain and other chest wall conditions.

*PHACE syndrome is sometimes called PHACES syndrome. The “S” identifies sternal clefting (missing or underdeveloped sternum).

What are the symptoms of PHACE syndrome?

PHACE syndrome symptoms vary for each person and can range in severity. Your child’s symptoms may include:

• Hemangiomas: These are discolored growths made of extra blood vessels. Most hemangiomas only affect the skin (often on the scalp, trunk, arms or hands), but some can target your baby’s internal organs and cause vision or hearing loss.
• Brain abnormalities: Your baby’s posterior fossa controls balance, coordination and vital functions, like breathing. Abnormalities in this area can lead to complications, such as involuntary movements and intellectual disabilities.
• Heart abnormalities: Certain heart abnormalities can cause 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.
• Arterial abnormalities: Narrowed arteries can prevent blood flow to your child’s brain. This can cause an aneurysm, seizures, stroke or the loss of feeling in one side of your baby’s body.
• Eye abnormalities: Parts of your child’s eye may not develop as expected. This could cause poor vision or vision loss, abnormally small eyes, uncontrollable eye movements or drooping eyes.
• Breastbone abnormalities: Your child may have a missing or underdeveloped breastbone (sternum). They may have grooves, indentations, pits or bumps where their sternum didn’t form as expected.

Complications of PHACE syndrome

People with PHACE syndrome have a higher risk of certain conditions due to structural and blood vessel abnormalities. These complications may include:

• Balance issues
• Dental conditions, like enamel hypoplasia and tooth root abnormalities
• Difficulty swallowing
• Endocrine system abnormalities, such as a lack of hormone production
• Migraines
• Poor growth
• Speech and language delays
• Stroke
• Underdeveloped reproductive organs

What causes PHACE syndrome?

Researchers don’t know why some babies are born with PHACE syndrome. Studies suggest both genetic and environmental causes. The exact genetic variation (change) isn’t well understood. Some experts believe that a random (de novo) gene change happens at conception.

How is PHACE syndrome diagnosed?

A healthcare provider will do a physical exam and testing. They’ll use diagnostic criteria (guidelines) to determine if your child has PHACE syndrome. Sometimes, providers can diagnose PHACE syndrome during pregnancy. Other times, the condition isn’t obvious until birth or later in infancy.

Typically, your child’s provider will look for the presence of a hemangioma on your baby’s body. They may also run several tests to get a closer look at your child’s brain, heart, arteries and eyes.

These tests may include:

• CT scans
• Echocardiograms
• Eye exams
• Hearing tests
• MRI
• Ultrasound

How is PHACE syndrome treated?

PHACE syndrome treatment focuses on preventing complications and helping your child manage their symptoms. Treatment varies based on how the condition affects their organs or specific parts of their body.

Treatment may include:

• Laser therapy for hemangiomas
• Learning support in school (special education)
• Surgery
• Medications
• Supportive devices for hearing loss or glasses for vision loss

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

What can I expect if my child has PHACE syndrome?

Your child will need regular check-ups with their primary care physician and specialists to make sure their symptoms aren’t affecting their quality of life.

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

What is the life expectancy for someone diagnosed with this 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.

Can it be prevented?

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.

When should I see my 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

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?