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PHACE syndrome

^ http://purl.obolibrary.org/obo/MONDO_0011676

PHACE is an acronym used to describe a syndrome characterised 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. [ Orphanet:42775 ]

Term info

database cross reference
  • OMIM:606519 (Orphanet:42775/e)
  • UMLS:C1847874 (Orphanet:42775)
  • GARD:0008338 (MONDO:equivalentTo)
  • MedDRA:10068032 (Orphanet:42775/e)
  • Orphanet:42775 (OMIM:606519)
Subsets

ordo_malformation_syndrome

closeMatch

http://identifiers.org/meddra/10068032

definition

PHACE is an acronym used to describe a syndrome characterised 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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1847874, https://omim.org/entry/606519, http://purl.obolibrary.org/obo/Orphanet_42775

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020182, http://purl.obolibrary.org/obo/MONDO_0018718, http://purl.obolibrary.org/obo/MONDO_0018729, http://purl.obolibrary.org/obo/MONDO_0018792, http://purl.obolibrary.org/obo/MONDO_0015145

has exact synonym

pascual-Castroviejo syndrome type 2

has related synonym

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

id

MONDO:0011676