Consensus Diagnostic Criteria for PHACE Syndrome

Organ SystemMajor CriteriaMinor Criteria
CerebrovascularAnomaly of major cerebral arteriesDysplasiaa of the large cerebral arteriesbArterial stenosis or occlusion with or without moyamoya collateralsPersistent embryonic artery other than trigeminal arteryProatlantal intersegmental artery (types 1 and 2)Primitive hypoglossal arteryPrimitive otic artery
 Absence or moderate-severe hypoplasia of the large cerebral arteries
 Aberrant origin or course of the large cerebral arteriesb
 Persistent trigeminal artery
 Saccular aneurysms of any cerebral arteries
Structural brainPosterior fossa anomalyDandy-Walker complex or unilateral/bilateral cerebellar hypoplasia/dysplasiaEnhancing extraaxial lesion with features consistent with intracranial hemangiomaMidline anomalyc
Neuronal migration disorderd
CardiovascularAortic arch anomalyVentricular septal defect
 Coarctation of aortaRight aortic arch (double aortic arch)
Aberrant origin of the subclavian artery with or without a vascular ring
OcularPosterior segment abnormalityAnterior segment abnormality
 Persistent hyperplastic primary vitreous MicrophthalmiaSclerocornea
 Persistent fetal vasculature Coloboma
 Retinal vascular anomalies Cataracts
 Morning glory disc anomaly
 Optic nerve hypoplasia Coloboma
 Peripapillary staphyloma
Ventral or midlineSternal defectHypopituitarism
 Sternal cleftEctopic thyroid
 Supraumbilical raphe
 Sternal defects
  • Adapted from ref 25.

  • a Includes kinking, looping, tortuosity, and/or dolichoectasia.

  • b Internal carotid artery, middle cerebral artery, anterior cerebral artery, posterior cerebral artery, or vertebrobasilar system

  • c Callosal agenesis or dysgenesis, septum pellucidum agenesis, pituitary malformation, or pituitary ectopia.

  • d Polymicrogyria, cortical dysplasia, or gray matter heterotopia.