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Registered: 03-06-1998
Thu, 11-11-2010 - 9:13am

PHACE Syndrome is the uncommon association between large infantile hemangiomas, usually of the face, and birth defects of the brain, heart, eyes, skin and/or arteries. It is an acronym that stands for the medical names of the parts of the body it often impacts:

P - Posterior fossa abnormalities and other structural brain abnormalities
H - Hemangioma(s) of the cervical facial region
A - Arterial cerebrovascular anomalies
C - Cardiac defects, aortic coarctation and other aortic abnormalities
E - Eye anomalies

Sometimes, an S is added making it PHACES, with the S standing for Sternal defects and/or Supraumbilical raphe.

The association of anomalies was first coined by Dr. Ilona Freidan in 1996, making it a relatively new and often unheard of syndrome. A diagnosis is generally made from the physical examination, along with imaging of the head and chest, and an eye examination. PHACE is most common among female infants. Long-term quality of life varies. Sometimes it is fatal, other times children have a rough few first years, then lead more normal lives.

In addition to the obvious visual characteristic (the hemangioma), PHACE children often suffer from strokes and seizures - which are generally at their worst when the hemangioma is in its growth phase. That growth phase can last anywhere from 6 to 18 months. Then involution, or healing, of the hemangioma begins. Laser and other surgeries usually are able to make a substantial positive impact on appearance. Long after the hemangioma recedes, any damage it or the other defects did, may remain. Migraines are common, as are developmental delays.

* Information from: