Phace Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Phace Syndrome?
Phace syndrome is usually managed by a team of doctors rather than one specialist, often including skin, heart, eye, and brain doctors. The exact team depends on the child's specific features. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Phace syndrome is a rare condition that babies are born with. The name stands for the main problems it can cause: large birthmarks called infantile hemangiomas, which are growths made of extra blood vessels, plus differences in the brain, blood vessels, eyes, and the chest area. Not every child has every part.
Symptoms
The most visible sign is a large infantile hemangioma, often on the face, head, or neck. These growths may look flat and reddish at birth and can grow larger during the first months of life. Some children also have problems with the arteries, brain, eyes, breastbone, or heart.
Causes and who gets it
Doctors do not know exactly what causes Phace syndrome. It is not usually passed down from parents; most cases happen in families with no history of it. It appears to affect girls more often than boys.
How doctors diagnose it
Doctors look at the pattern of the hemangioma and check for problems in other parts of the body, since there is no single test. A child may need an MRI of the brain and blood vessels, an echocardiogram, and eye exams or hearing tests.
Treatment
Treatment depends on which parts of the body are affected. Some hemangiomas need medicine to shrink them, especially if they press on the airway, the eyes, or other important structures. A common medicine is a beta blocker.
When to see a doctor
Parents should talk to a doctor if a baby has a large or growing birthmark on the face, head, or neck. Seek care quickly if a child with a facial hemangioma has trouble breathing, problems feeding, or changes in the eyes.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either one can be a steady home base for a family dealing with a rare condition, coordinating specialist visits and routine care. They do not treat Phace syndrome itself and would refer the child to specialists. For questions about referrals or ongoing care, families can contact FindMyDirectDoctor.com.
Common questions
Is Phace syndrome life threatening?
Most children with Phace syndrome do well, but some features need close monitoring, such as certain heart or blood vessel problems. The level of risk depends on which parts of the body are affected. Regular follow up with specialists helps manage these risks.
Will my child's hemangioma go away?
Many infantile hemangiomas shrink over several years, though they may leave changes in the skin. Some need medicine to shrink faster or to protect nearby structures. Results differ from child to child, so doctors track each growth closely.
Can Phace syndrome be prevented?
No. Doctors do not know what causes it, and it is not linked to anything parents did. It is not usually inherited from either parent.
Does Phace syndrome affect learning or development?
Some children with brain differences linked to Phace syndrome have developmental delays, which means they reach milestones later than expected. Others develop normally. Early testing and support services can help children who need them.
Sources
- NIH Genetic and Rare Diseases Information Center - PHACE syndrome
- National Organization for Rare Disorders (NORD) - PHACE Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
