PHACE syndrome
MONDO:0011676
PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.
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PHACE syndrome
PHACE syndrome is a medical condition characterized by uncommon associations between birth defects of the brain, skin (large facial infantile hemangiomas), arteries, heart and eyes. "PHACE" is an acronym for the parts of the body the syndrome usually impacts: Posterior fossa abnormalities and other structural brain abnormalities. Hemangioma(s) of the cervical facial region. Arterial cerebrovascular anomalies. Cardiac defects, aortic coarctation and other aortic abnormalities. Eye anomalies. Sometimes an "S" is added to PHACE making the acronym PHACES; with the "S" standing for "Sternal defects" and/or "Supraumbilical raphe." PHACE syndrome may affect infants with large plaque-type facial hemangiomas. Children who present this skin condition should receive careful ophthalmologic, cardiac, and neurologic assessment. According to one study of infants with large hemangiomas, one-third have symptoms consistent with the diagnosis of PHACE syndrome. The most common are cerebrovascular and cardiovascular anomalies.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.