PHACE syndrome diagnostic criteria
PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other abnormalities. When diagnosing PHACE syndrome, doctors often use the criteria listed in the chart below. Patients typically have a facial hemangioma that is larger than 5 centimeters in diameter plus 1 major criteria or 2 minor criteria.
Many of these terms may be difficult to understand. Please talk with your doctor or contact Marcia Seefeldt, RN, at (414) 266-3727 or e-mail vac@chw.org.
For more information about PHACE syndrome, view our PHACEing the Future Conference videos.
| Organ system |
Major criteria |
Minor criteria |
| Cerebrovascular (define) |
- Anomaly of the major cerebral arteries
- Dysplasia of the large cerebral arteries
- Arterial stenosis or occlusion with or
without moyamoya collaterals
- Absence or moderate to severe hypoplasia of the large cerebral arteries
- Aberrant origin or course of the large
cerebral arteries
- Persistent trigeminal artery
- Saccular aneurysms of any cerebral arteries
|
-
Persistent embryonic artery other than trigeminal artery
-
Proatlantal intersegmental artery
-
Primitive hypoglossal artery
-
Primitive otic artery |
| Structural brain (define) |
- Posterior fossa anomaly
- Dandy-Walker complex or unilateral/bilateral cerebellar hypoplasia/dysplasia
|
|
| Cardiovascular (heart) |
- Aortic arch anomaly
- Coarctation of the aorta dysplasia
- Aneurysm
- Aberrant origin of the subclavian artery with or without a vascular ring
|
- Ventricular septal defect
- Right aortic arch (double aortic arch)
|
| Ocular (eyes) |
- Posterior segment abnormality
- Persistent fetal vasculature
- Retinal vascular anomalies
- Morning Glory disc anomaly
- Optic nerve hypoplasia
- Peripapillary staphyloma
- Coloboma
|
- Anterior segment abnormality
- Sclerocornea
- Cataract
- Coloboma
- Microphthalmia
|
| Ventral or midline (define) |
- Sternal defect
- Sternal cleft
- Suparumbilical raphe
|
- Hypopituitarism
- Ectopic thyroid
|
|