Living with PHACE syndrome
A condition with a large birthmark (hemangioma) on the face or neck, along with brain, blood vessel, heart, or eye differences.
Understanding PHACE syndrome
PHACE stands for posterior fossa brain differences, hemangioma, arterial (blood vessel) differences in the head or neck, cardiac (heart) differences such as aortic coarctation, and eye differences. Symptoms and severity vary from person to person. Signs are seen during pregnancy, at birth, and in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large hemangioma on the face or neck
- Brain differences, such as Dandy-Walker malformation
- Blood vessel differences in the head and neck
- Heart differences
- Small eyeball (microphthalmia)
- Glaucoma or small optic nerve
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
PHACE Syndrome Community and Vascular Birthmarks Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: PHACE Syndrome Community, Vascular Birthmarks Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with PHACE Syndrome Community and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the cause is currently unknown.
Also known as: aortic aneurysm, giant congenital; pascual-castroviejo syndrome type 2; phace association; phaces association; phaces syndrome
Patient organizations
- PHACE Syndrome CommunityPHACE syndrome · United States
- Vascular Birthmarks FoundationPHACE syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with PHACE syndrome.
Explore research for PHACE syndrome
Explore actively recruiting PHACE syndrome studies with HealthSpark.
Find actively recruiting studies for PHACE syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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