Diagnostic Criteria: PHACE Syndrome

PHACE Syndrome
Facial Hemangioma >5 cm in diameter
1 Major Criteria OR 2 Minor Criteria
Possible PHACE Syndrome
Facial Hemangioma >5 cm in diameterHemangioma of the Neck or Upper TorsoNo Hemangioma
    PLUS    PLUS    PLUS
1 Minor Criteria1 Major Criteria OR 2 Minor Criteria2 Major Criteria
Organ SystemMajor CriteriaMinor Criteria
CerebrovascularAnomaly of major cerebral arteriesPersistent embryonic artery other than trigeminal artery
    Dysplasiaa of the large cerebral arteriesb    Proatlantal intersegmental artery (types 1 and 2)
    Arterial stenosis or occlusion with or without moyamoya collaterals    Primitive hypoglossal artery
    Absence or moderate to severe hypoplasia of the large cerebral arteries    Primitive otic arteryc
    Aberrant origin or course of the large cerebral arteriesb
    Persistent trigeminal artery
    Saccular aneurysms of any cerebral arteries
Structural brainPosterior fossa anomalyEnhancing extra-axial lesion with features consistent with intracranial hemangiomac
    Dandy-Walker complex or unilateral/bilateral cerebellar hypoplasia/dysplasia    Midline anomalyd
    Neuronal migration disordere
CardiovascularAortic arch anomalyVentricular septal defect
    Coarctation of aorta Dysplasiaa    Right aortic arch (double aortic arch)
    Aberrant origin of the subclavian artery with or without a vascular ring
OcularPosterior segment abnormalityAnterior segment abnormality
    Persistent fetal vasculature (persistent hyperplastic primary vitreous)    Sclerocornea
    Retinal vascular anomalies    Cataract
    Morning Glory disc anomaly Optic nerve hypoplasia    Coloboma
    Peripapillary staphyloma    Microphthalmia
Ventral or midlineSternal DefectHypopituitarism
    Sternal cleft    Ectopic thyroid
    Supraumbilical raphe
    Sternal defects
  • 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 See Structural Brain Anomalies section for discussion.

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

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