Diagnostic Criteria of the American Academy of Pediatrics for the PHACE Syndrome

 

Parameters:

(1) hemangioma

(2) major criteria

(3) minor criteria

Hemangioma	Major Criteria	Minor Criteria	Diagnosis
facial, > 5 cm in diameter	1 or more	NA	definite
facial, > 5 cm in diameter	NA	2 or more	definite
facial, > 5 cm in diameter	NA	1	possible
face, neck or upper torso	1 or more	NA	possible
face, neck or upper torso	NA	2 or more	possible
None	2 or more	NA	possible

 

Major criteria:

(1) anomaly of a major cerebral artery

(1a) dysplasia of the large cerebral arteries

(1b) arterial stenosis or occlusion with or without Moyamoya collaterals

(1c) absence, moderate or severe hypoplasia of the large cerebral arteries

(1d) aberrant origin or course of the large cerebral arteries

(1e) persistent trigeminal artery

(1f) saccular anueurysm of any cerebral artery

(2) posterior fossa anomaly (Dandy-Walker complex, cerebellar hypoplasia, cerebellar dysplasia)

(3) coarctation of the aorta, aneurysm of the aortic arch, aberrant origin of the subclavian artery or other anomaly of the aortic arch (excluding those that fulfill the minor criteria)

(4) abnormality of the posterior segement of the eye (morning glory disc, optic nerve hypoplasia, peripapillary staphyloma, retinal vascular anomalies, persistent fetal vasculature)

(5) sternal defect (sternal cleft) or supraumbilical raphe

 

where:

• Major cerebral arteries are the internal carotid artery, the middle cerebral artery, the anterior cerebral artery, the posterior cerebral artery or the vertebrobasilar arteries.

• Arterial dysplasia inclues kinking, looping, dolichoectasia, and/or increased tortuosity.

 

Minor criteria:

(1) persistent embryonic artery other than the trigerminal artery

(1a) primitive otic artery

(1b) primitive hypoglossal artery

(1c) proatlantal intersegmental artery Types 1 and 2

(2) ventricular septal defect

(3) right aortic arch (double aortic arch)

(4) anterior segment abnormality in the eye (sclerocornea, cataract, coloboma)

(5) microphthalmia

(6) hypopituitarism, pituitary malformation, ectopic pituitary

(7) ectopic thyroid

(8) enhancing extra-axial intracranial lesion with features consistent with an intracranial hemangioma

(9) midline anomaly in the brain (callosal agenesis, callosal dysgenesis, septum pellucidum agenesis)

(10) neuronal migration disorder (polymicrogyria, cortical dysplasia, gray matter heterotopia)