Table 2

Diagnostic criteria of PHACE syndrome3

Organ systemsMajor criteriaMinor criteria
Arterial anomaliesAnomaly of major cerebral or cervical 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 and cervical arteries

  • Aberrant origin or course of the large cerebral or cervical arteries except common arch variants such as bovine arch

  • Persistent carotid–vertebrobasilar anastomosis (proatlantal segmental, hypoglossal, otic and/or trigeminal arteries)

Aneurysm of any of the cerebral arteries
Structural brainPosterior fossa brain anomalies
  • Dandy-Walker complex

  • Other hypoplasia/dysplasia of the mid and/or hind brain

Midline brain anomalies
Malformation of cortical development
CardiovascularAortic arch anomalies
  • 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
Systemic venous anomalies
OcularPosterior segment abnormalities
  • Persistent hyperplastic primary vitreous

  • Persistent fetal vasculature

  • Retinal vascular anomalies†

  • Morning glory disc anomaly

  • Optic nerve hypoplasia

  • Peripapillary staphyloma

Anterior segment abnormalities
  • Microphthalmia

  • Sclerocornea

  • Coloboma

  • Cataracts

Ventral/midlineAnomaly of the midline chest and abdomen
  • Sternal defect

  • Sternal pit

  • Sternal cleft

  • Supraumbilical raphe

Ectopic thyroid hypopituitarism
Midline sternal papule/hamartoma
Definite PHACE
Haemangioma >5 cm in diameter of the head, including scalp
plus one major criteria or two minor criteria†
Haemangioma of the neck, upper trunk or trunk and proximal upper extremity
Plus two major criteria
Possible PHACE
Haemangioma > 5 cm in diameter of the head including scalp plus
one minor criteria
Haemangioma of the neck, upper trunk or trunk and proximal upper extremity
Plus one major or two minor
No haemangioma
Plus two major criteria
  • *Internal carotid artery, middle cerebral artery, anterior cerebral artery, posterior cerebral artery or vertebrobasilar system

  • †Diagnostic criteria present in this patient

  • ‡Includes kinking, looping, tortuosity and/or dolichoectasia

  • PHACE, posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects and eye abnormalities.