What is PHACE Syndrome?

A syndrome is defined as a recognizable pattern of medical conditions that occur together. PHACE syndrome is a disorder characterized by large infantile hemangiomas of the face, scalp and neck associated with developmental defects of the brain, blood vessels, eyes, heart, and chest wall.

PHACES Defined:

  • Posterior fossa-These are brain malformations that are  present at birth.
  • Hemangioma-The hemangioma usually covers a large area on the skin of the head or neck (greater than 5 cm). The term “segmental” is sometimes used to describe these hemangiomas.
  • Arterial lesions-The abnormalities of the blood vessels in the neck or head.
  • Cardiac abnormalities/aortic coarctation-These are abnormalities of the heart or the blood vessels that are attached to the heart.
  • Eye abnormalities.
  • Sternum abnormalities- developmental defects of the sternum

History of PHACE Syndrome

PHACE syndrome is a relatively newly discovered entity, and was first described in 1996 by a physician who recognized a pattern of problems in babies with large facial hemangiomas. Dr. Ilona Frieden and colleagues published a medical paper detailing 5 babies with large facial hemangiomas and anomalies of the brain, aortic arch, eye, and arteries. Frieden created the term PHACE, which is an acronym (a word formed from the first letters of the several words in the name) which refers to Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/Coarctation of the aorta, and Eye anomalies, Sternum abnormalities.

Every child diagnosed with PHACE syndrome has a different combination of abnormalities associated with the syndrome. Not every affected child has all of the same symptoms, and there is a broad spectrum of severity. In most cases, there is no history of PHACE syndrome or similar medical conditions in the family. For reasons we do not understand, girls are more likely to get PHACE syndrome when compared to boys, but the severity of the disease does not seem to be worse in either sex. At this point, little is known about what problems may occur as children with PHACE syndrome get older. The cause of PHACE syndrome remains unknown. However, nationwide research efforts are beginning to provide valuable information about PHACE syndrome with the goal of improving clinical care for these children.

How is PHACE Syndrome diagnosed?

The identification of PHACE syndrome is made by a clinical diagnosis - this means there is no one sign or symptom that will indicate a diagnosis of PHACE syndrome. Currently, there is no blood test or genetic test for PHACE syndrome. Physicians use a combination of signs and symptoms called diagnostic criteria to make the diagnosis (see Below). Most children with PHACE syndrome have a large hemangioma on the face, scalp, or neck. One study found that 31% of children with large infantile hemangiomas on the face or scalp have PHACE syndrome. Rarely, children with large hemangiomas of the arm and/or trunk may also have PHACE syndrome. Children with a large segmental hemangioma of the head and neck should undergo a thorough evaluation, especially of the brain, heart, blood vessels and eyes. If a child is at risk for PHACE syndrome, certain tests and examinations should be considered

What are the diagnostic criteria for PHACE Syndrome?

The diagnosis of PHACE syndrome is made by using a combination of major and minor criteria. Major criteria are findings that are common in PHACE syndrome but rare in other medical conditions. Minor criteria are findings that are seen in PHACE syndrome but can also be found in other conditions. There are additional features of PHACE syndrome that are not included in the diagnostic criteria but are still very important to the health and management of children with PHACE syndrome.

Affected children are classified into two categories, definite PHACE syndrome and possible PHACE syndrome, based on the nature and number of criteria met. Definite PHACE syndrome requires the presence of a characteristic segmental hemangioma greater than 5 cm in diameter on the face (or scalp) plus one of the major criterion or two minor criteria listed in Table 1. Possible PHACE syndrome can be diagnosed in one of three different combinations: a) Facial hemangioma greater than 5 cm in diameter plus 1 minor criterion; b) hemangioma of the neck or upper torso plus 1 major criterion or 2 minor criteria; or c) no hemangioma plus 2 major criteria. Note that more than one anomaly in one organ system (for example, two heart conditions) only counts for one criterion.

Table 1: Diagnostic criteria for PHACE Syndrome
Organ System Major Criteria Minor Criteria
Cerebrovascular • Anomaly of major cerebral arteries• Dysplasia of the large cerebral arteries• Arterial stenosis or occlusion with or without moyamoya collaterals• Absence or moderate-severe hypoplasia of the large cerebral arteries• Aberrant origin or course of the large cerebral arteries• Persistent trigeminal artery• Saccular aneurysms of any cerebral arteries • Persistent embryonic artery other than trigeminal artery• Proatlantal intersegmental artery (types 1 and 2)• Primitive hypoglossal artery• Primitive otic artery
Structural Brain • Posterior fossa anomaly• Dandy-Walker complex or unilateral/bilateral cerebellar   hypoplasia/dysplasia • Enhancing extra-axial lesion with features consistent with   intracranial hemangioma• Midline anomaly• Neuronal migration disorder
Cardiovascular • Aortic arch anomaly• Coarctation of aorta• Dysplasia• Aneurysm• Aberrant origin of the subclavian artery with or without a vascular ring • Ventricular septal defect• Right aortic arch (double aortic arch)
Ocular • Posterior segment abnormality• Persistent fetal vasculature (Persistent hyperplastic primary vitreous)• Retinal vascular anomalies• Morning glory disc anomaly• Optic nerve hypoplasia• Peripapillary staphyloma• Coloboma • Anterior segment abnormality• Sclerocornea• Cataract• Coloboma• Microphthalmia
Ventral or Midline • Sternal defect• Sternal cleft• Supraumbilical raphe • Hypopituitarism• Ectopic thyroid

For full PHACE Syndrome information, please click here to read the PHACE Syndrome Handbook

Patients presenting with a large hemangioma of the head and neck should be evaluated for PHACE in the first days of life.