PHACE association

PHACE syndrome

Overview

Type of disease: Rare conditions

PHACE syndrome is the association of a large hemangioma usually on the face or neck, in combination with one or more other birth defect.   People with PHACE syndrome may have Posterior fossa brain malformations, Hemangioma, Arterial lesions (blood vessel abnormalities in the head or neck), Cardiac (heart) abnormalities/aortic coarctation, and Eye abnormalities. Symptom and symptom severity may vary from person to person. The cause of the condition is currently unknown. It affects girls much more often than boys.

Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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