Relative Frequencies of Major and Minor Criteria in the Published Literature and PHACE Syndrome Registries

ParameterPublished (N = 317), %Texas Children's Registry (N = 46), %Genetic Analysis of PHACE OHSU (N = 65), %
    Segmental infantile hemangioma of head92.495.7100.0
    Infantile hemangioma of head >5 cm292.495.7100.0
    Dysplasia of large cerebral arterya15.430.513.9
    Stenosis, occlusion, absence, or hypoplasia of larger cerebral arteryb18.352.260.4
    Aberrant origin or course of the large cerebral arteries4.410.92.0
    Persistent trigeminal artery4.713.02.0
    Posterior fossa anomaly32.230.434.5
    Coarctation of the aorta14.56.528.3
    Anomalous subclavian6.315.213.9
    Posterior segment anomalies of the eye5.78.77.7
    Sternal defect19.5010.9021.58
    Umbilical raphe9.14.39.2
    Segmental infantile hemangioma of neck or chest only0.34.30.0
    Persistent embryonic arteries other than trigeminal artery1.68.76.9
    Midline anomaliesc6.36.51.5
    Disorders of migrationd2.84.36.2
    Ventricular septal defect7.68.713.2
    Anterior segment defect of the eye6.68.77.7
    Sternal papule1.62.21.5
  • a Includes kinking, looping, fusiform aneurysms, 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.