PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aorti...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Documentation for PHACE syndrome is limited due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity leads to a lack of systematic clinical studies and comprehensive phenotypic documentation. Additionally, the condition's complexity and variability in presentation make it challenging to characterize fully. Ongoing research aims to better understand this syndrome and improve patient care.
To navigate PHACE syndrome effectively, consider consulting with a pediatric neurologist or a specialist in vascular anomalies who has experience with rare syndromes. The PHACE Syndrome Community offers valuable resources and support for families affected by this condition, which can be found at https://phacesyndromecommunity.org. Additionally, inquire about participating in research studies or registries that focus on PHACE syndrome to contribute to the understanding of this condition and its management.
Currently, there are two active clinical trials related to PHACE syndrome. These trials may explore various aspects of the syndrome and potential interventions. For more details, you can search for specific trials on ClinicalTrials.gov using the following link: https://clinicaltrials.gov/search?cond=PHACE%20syndrome. While there are no orphan drugs designated for this condition, participation in clinical trials may provide access to new treatments and contribute to advancing knowledge about PHACE syndrome.
Actionable guidance for navigating care for PHACE syndrome
To navigate PHACE syndrome effectively, consider consulting with a pediatric neurologist or a specialist in vascular anomalies who has experience with rare syndromes. The PHACE Syndrome Community offers valuable resources and support for families affected by this condition, which can be found at https://phacesyndromecommunity.org. Additionally, inquire about participating in research studies or registries that focus on PHACE syndrome to contribute to the understanding of this condition and its management.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the PHACE syndrome community
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.