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PHACE syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

PHACE syndrome

MONDO:0011676

Also known as:pascual-Castroviejo syndrome type 2P-CIISPHACE association

Find Clinical TrialsTrials

Overview

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, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.

GeneticsX-linked, Sporadic (not inherited)

Clinical Trials2 registered

Patient Orgs1 organizations · PHACE Syndrome Community

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Anomalous branches of internal carotid artery, Seizure, Arterial stenosis, and Lingual thyroid and 20 more.

Organ System	Phenotype Count	Example Features
Eyes	4	Developmental cataract, Increased retinal vascularity, Optic nerve hypoplasia

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

42 publications have been identified in PubMed for PHACE syndrome. Research spans Case Report / Case Series (62%), Review / Meta-Analysis (14%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	26	62%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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PHACE Syndrome CommunityPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606519

Orphanet

European rare disease database

Orphanet:42775

GARD

Genetic and Rare Diseases Info Center

GARD:8338

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with PHACE Syndrome Community and other patient organizations for support?

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PHACE syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

PHACE syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications