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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.

Also known as: pascual-Castroviejo syndrome type 2, P-CIIS, PHACE association, Phaces association, Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities, aortic aneurysm, giant congenital, pascual-Castroviejo type II syndrome

187 clinical trials for this condition and its sub-types.

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Broader categories

Cardiovascular disorder (969) Disease (618) Heart disorder (273) Nervous system disorder (217) Human disease (14) Developmental defect during embryogenesis (7) Central nervous system malformation (5) Congenital nervous system disorder (1) Multiple congenital anomalies/dysmorphic syndrome (1) Disease by body system or component (0)
Trials to join now! 73 Not yet recruiting 34 Not yet finished but already full! 25 Completed 51 Terminated 4
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