Consensus Diagnostic Criteria for PHACE Syndrome
| Organ System . | Major Criteria . | Minor Criteria . |
|---|---|---|
| Cerebrovascular | Anomaly of major cerebral arteriesDysplasiaa of the large cerebral arteriesbArterial stenosis or occlusion with or without moyamoya collaterals | Persistent 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 brain | Posterior fossa anomalyDandy-Walker complex or unilateral/bilateral cerebellar hypoplasia/dysplasia | Enhancing extraaxial lesion with features consistent with intracranial hemangiomaMidline anomalyc |
| Neuronal migration disorderd | ||
| Cardiovascular | Aortic arch anomaly | Ventricular septal defect |
| Coarctation of aorta | Right aortic arch (double aortic arch) | |
| Dysplasiaa | ||
| Aneurysm | ||
| Aberrant origin of the subclavian artery with or without a vascular ring | ||
| Ocular | Posterior segment abnormality | Anterior 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 midline | Sternal defect | Hypopituitarism |
| Sternal cleft | Ectopic thyroid | |
| Supraumbilical raphe | ||
| Sternal defects |
| Organ System . | Major Criteria . | Minor Criteria . |
|---|---|---|
| Cerebrovascular | Anomaly of major cerebral arteriesDysplasiaa of the large cerebral arteriesbArterial stenosis or occlusion with or without moyamoya collaterals | Persistent 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 brain | Posterior fossa anomalyDandy-Walker complex or unilateral/bilateral cerebellar hypoplasia/dysplasia | Enhancing extraaxial lesion with features consistent with intracranial hemangiomaMidline anomalyc |
| Neuronal migration disorderd | ||
| Cardiovascular | Aortic arch anomaly | Ventricular septal defect |
| Coarctation of aorta | Right aortic arch (double aortic arch) | |
| Dysplasiaa | ||
| Aneurysm | ||
| Aberrant origin of the subclavian artery with or without a vascular ring | ||
| Ocular | Posterior segment abnormality | Anterior 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 midline | Sternal defect | Hypopituitarism |
| Sternal cleft | Ectopic thyroid | |
| Supraumbilical raphe | ||
| Sternal defects |
Adapted from ref 25.
Includes kinking, looping, tortuosity, and/or dolichoectasia.
Internal carotid artery, middle cerebral artery, anterior cerebral artery, posterior cerebral artery, or vertebrobasilar system
Callosal agenesis or dysgenesis, septum pellucidum agenesis, pituitary malformation, or pituitary ectopia.
Polymicrogyria, cortical dysplasia, or gray matter heterotopia.