PHACE syndrome
Findings
No curated finding names PHACE syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011676), read 2026-09-29. CC BY 4.0.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cerebral artery morphologyHPOHP:0009145
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Cerebral arteriovenous malformationHPOHP:0002408
- Frequent (30% to 79% of cases)
- Dandy-Walker malformationHPOHP:0001305
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
Show the remaining 22
- AmblyopiaHPOHP:0000646
- Occasional (5% to 29% of cases)
- Aortic root aneurysmHPOHP:0002616
- Occasional (5% to 29% of cases)
- Capillary hemangiomaHPOHP:0005306
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Occasional (5% to 29% of cases)
- Coarctation of aortaHPOHP:0001680
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: PHACE syndrome
- Also called
- pascual-Castroviejo syndrome type 2