Diagnosing PHACE Syndrome

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.

People with PHACE syndrome typically have a facial hemangioma that is larger than 5 centimeters in diameter in addition to one major criterion or two minor criteria.

Many of these are criteria include medical terms that most of us have never heard of, and therefore you may have questions about what they mean and whether your child is affected. For more detailed information about PHACE syndrome diagnostic criteria, talk with your doctor or contact Marcia Seefeldt, RN, by phone at (414) 266-3727 or via email at mseefeldt@chw.org.

Organ system  Major criteria (at least one) Minor criteria (at least two) 
Cerebrovascular (the brain and its blood vessels)
  • Anomaly of the major cerebral arteries 
  • Dysplasia of the large cerebral arteries
  • Arterial stenosis or occlusion with or
    without moyamoya collaterals
  • Absence of 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 (the physical brain)
  • Posterior fossa anomaly
  • Dandy-Walker complex or unilateral/bilateral cerebellar hypoplasia/dysplasia
  • Enhancing extra-axial lesion with features consistent with intracranial hemangioma
  • Midline anomaly
  • Neuronal migration disorder 
     
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  
  • Sternal defect
  • Sternal cleft
  • Suparumbilical raphe
  • Hypopituitarism
  • Ectopic thyroid