Synonyms of PHACE Syndrome

Pascual-Castroviejo type II syndrome

PHACE association

PHACES association

PHACES syndrome

PHACE syndrome is a rare disorder that affects multiple systems of the body. This disorder is characterized by an association of several different abnormalities that occur together with greater frequency than would otherwise be expected.

The term PHACE is an acronym; each letter stands for a word.

The acronym comes from the first letter of some of the more common signs and symptoms of this disorder. PHACE stands for: (P)osterior fossa and other structural brain malformations; large (H)emangiomas of the face, neck, and/or scalp; anatomical anomalies of the cerebral or cervical (A)rteries; (C)ardiac anomalies/(C)oarctation of the aorta; and (E)ye abnormalities. If sternal anomalies are present, sometimes the term PHACES syndrome is used, with (S) standing for (S)ternal anomalies.

The disorder occurs with much greater frequency in girls than boys. The specific symptoms and their severity can vary greatly from one individual to another.

Most affected children will not exhibit all of the major symptoms potentially associated with this disorder. Some children with only develop mild problems associated with the disorder, while others will develop serious complications that greatly impact quality of life.

The exact cause of PHACE syndrome is not known. PHACE syndrome was first identified in the medical literature in 1996.