Understanding PHACE Syndrome: Causes, Symptoms, and Care
Updated: 2 days ago
Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: September 2026
TL;DR
PHACE syndrome is a rare congenital condition characterized by a cluster of abnormalities affecting the brain, heart, arteries, eyes, and skin. Its hallmark sign is a large facial hemangioma. While the exact cause is unknown, early diagnosis through specialized imaging and multisystem management can help prevent complications like stroke or vision loss.
Quick Answer
PHACE syndrome is a rare congenital condition involving a specific group of developmental abnormalities. The acronym stands for Posterior fossa brain malformations, Hemangiomas, Arterial defects, Cardiac issues, and Eye abnormalities, with an optional "S" for Sternal clefting. It primarily presents as large, discolored birthmarks (hemangiomas) on a child's face or neck. Treatment focuses on managing individual symptoms and preventing complications through laser therapy, medication, or surgery, depending on which organs are affected.
What is PHACE Syndrome?
PHACE syndrome is a rare multisystem disorder that children are born with, meaning it is a congenital condition. The condition is defined by a specific set of developmental abnormalities that can affect the skin, brain, heart, major arteries, and eyes. While the syndrome is named after these potential issues, it is very rare for a child to experience every single abnormality associated with the condition. Most children diagnosed with PHACE syndrome show a combination of some, but not all, of the hallmark signs.
The term PHACE is an acronym used by medical professionals to describe the specific areas of the body that may be impacted:
Posterior fossa: Malformations in the back of the brain that control balance and breathing.
Hemangioma: Noncancerous growths of blood vessels, often appearing as large birthmarks on the face or neck. For a general overview, see our guide on hemangiomas.
Arterial abnormalities: Defects in the arteries of the head or neck that can restrict blood flow.
Cardiac abnormalities: Heart and vascular issues, such as a narrowed aorta.
Eye abnormalities: Developmental issues that may lead to vision impairment.
Sternal clefting: Malformations of the breastbone (sternum), which sometimes leads to the alternate name PHACES syndrome.
Symptoms and Clinical Presentation
The symptoms of PHACE syndrome vary significantly between individuals in both type and severity. The most visible sign is typically a hemangioma, a discolored growth made of extra blood vessels. While these often appear on the scalp, face, or neck, they can also affect internal organs, potentially impacting hearing or vision.
System Affected | Common Symptoms and Signs |
Brain | Balance issues, coordination problems, involuntary movements, and potential intellectual disabilities. |
Heart | Difficulty breathing, muscle weakness, sweating, irritability, and holes in the heart (ventricular septal defects). |
Arteries | Narrowed vessels that may lead to seizures, aneurysms, or stroke. |
Eyes | Uncontrollable movements, drooping lids, abnormally small eyes, and vision loss. |
Sternal | Indentations, pits, or grooves in the breastbone area where the bone did not form correctly. |
Causes and Risk Factors
Researchers have not yet identified a definitive cause for PHACE syndrome. Current studies suggest a combination of genetic and environmental factors may be involved. The condition is generally believed to result from a random (de novo) genetic change that occurs at the time of conception. Because the exact trigger is not well understood, there are currently no known ways to prevent a child from being born with the syndrome.
Diagnosis and Medical Evaluation
Diagnosis often begins with a physical examination when a healthcare provider notices a large hemangioma. In some cases, abnormalities may be detected during pregnancy through prenatal imaging, but the condition is frequently diagnosed at birth or during early infancy. To confirm a diagnosis and assess the extent of the syndrome, providers use specific diagnostic criteria and a battery of tests to examine the internal organs.
Diagnostic Tool | Purpose in PHACE Syndrome |
MRI / CT Scans | To visualize brain structures and arterial pathways in the head and neck. |
Echocardiogram | To check for heart defects and vascular issues like aortic narrowing. |
Eye & Hearing Exams | To assess functional impacts on vision and auditory health. |
Ultrasound | To provide a non-invasive look at internal organs and blood flow. |
Treatment and Long-Term Management
Treatment for PHACE syndrome is highly individualized, focusing on the specific symptoms present in the child. The primary goal is to manage symptoms and prevent life-threatening complications. This often requires a multidisciplinary team of specialists, including dermatologists, cardiologists, and neurologists.
Common management strategies include:
Laser Therapy: Used to treat and reduce the appearance of skin hemangiomas.
Surgery: Necessary for correcting heart defects or arterial abnormalities.
Medications: Prescribed to manage symptoms like high blood pressure or to slow hemangioma growth.
Supportive Care: Including special education, hearing aids, or corrective lenses for vision issues.
Outlook and Complications
The long-term outlook for a child with PHACE syndrome depends heavily on the severity of their symptoms and which organs are involved. Children with mild symptoms often have an average lifespan and a high quality of life. However, severe involvement of the brain or heart can lead to serious complications, including stroke, migraines, speech delays, and endocrine system abnormalities. Regular monitoring with a primary care physician and relevant specialists is essential to ensure early intervention if new symptoms arise.
Conclusion
PHACE syndrome is a complex, multisystem condition that requires dedicated, specialized care from birth. While the diagnosis can be overwhelming for families, early identification and a proactive treatment plan can significantly improve a child's development and long-term health. If you notice a large, growing birthmark on your infant's face or if they exhibit breathing difficulties or developmental delays, consult a pediatric specialist immediately to begin a comprehensive evaluation.
Ready to learn more about pediatric vascular conditions? Schedule a consultation with a pediatric specialist today to discuss your child's health and development.
Frequently Asked Questions
1. What does the acronym PHACE stand for?
It stands for Posterior fossa, Hemangioma, Arterial, Cardiac, and Eye abnormalities.
2. Is PHACE syndrome hereditary?
It is generally considered to be a random genetic change rather than a condition passed down from parents.
3. How common is PHACE syndrome?
It is considered a rare condition, though the exact prevalence is not well-defined.
4. Can PHACE syndrome be diagnosed before birth?
Yes, some abnormalities may be visible on prenatal ultrasounds or other imaging tests.
5. What is a hemangioma?
It is a noncancerous growth made of extra blood vessels, often appearing as a bright red birthmark.
6. Can PHACE syndrome cause a stroke?
Yes, arterial abnormalities in the head and neck can increase the risk of stroke in affected children.
7. Are all children with facial hemangiomas affected by PHACE?
No, but a large facial hemangioma is a primary indicator that requires further screening for the syndrome.
8. What are the signs of heart involvement?
Signs include difficulty breathing, sweating, irritability, and high blood pressure.
9. How are eye abnormalities treated?
Treatment may include corrective lenses, surgery, or monitoring by a pediatric ophthalmologist.
10. Is there a cure for PHACE syndrome?
There is no cure, but the individual symptoms can be managed effectively with medical intervention.
11. Does PHACE syndrome affect intelligence?
Some children may experience intellectual disabilities or speech delays depending on brain involvement.
12. What is sternal clefting?
It is a malformation where the breastbone (sternum) is missing or did not develop completely.
13. When should I take my child to the ER?
Seek emergency care for seizures, trouble breathing, irregular heartbeat, or signs of a stroke.
14. What specialists treat PHACE syndrome?
Care typically involves dermatologists, cardiologists, neurologists, and ophthalmologists.
15. Can laser therapy help with birthmarks?
Yes, laser therapy is a common treatment to reduce the size and color of hemangiomas.
Further Reading
Medical Disclaimer: This content is for informational purposes only and does not constitute medical advice. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Source Date: December 19, 2025
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