PHACE syndrome
MONDO:0011676PHACE 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
3 clinical trials for this condition and its sub-types.
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Scientists hunt for hidden genes behind aortic aneurysms
Knowledge-focused OngoingThis study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …
Sponsor: Yale University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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Gene hunt launched for rare PHACE syndrome
Knowledge-focused ENROLLING_BY_INVITATIONThis study aims to find the genetic cause of PHACE syndrome, a rare condition. Researchers will analyze DNA from 50 people diagnosed with PHACE. Participants must also have an eye exam. The goal is to identify genes that may be responsible for the syndrome, which could lead to be…
Sponsor: Vanderbilt University Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:06 UTC