vitalwiki

PHACE syndrome

ORPHA:42775· ICD-10 Q28.8

Definition

A rare infantile hemangioma characterized by the association of anomalies of Posterior fossa brain malformations, segmental infantile large facial or neck Hemangiomas, Arterial anomalies (usually of the head and neck or the arteries supplying the brain), aortic coarctation and other Cardiac anomalies, and Eye abnormalities (acronym PHACE). Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES.

Prevalence
<1 / 1 000 000
Inheritance
Unknown
Age of onset
Antenatal, Infancy, Neonatal