PHACE syndrome
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.
MONDO:0015145
obsolete neurovascular malformation (obsolete MONDO:0015145)
excluded_subClassOf
MONDO:0018718
obsolete vascular tumor with associated anomalies (obsolete MONDO:0018718)
excluded_subClassOf
MONDO:0018729
obsolete genetic vascular tumor (obsolete MONDO:0018729)
excluded_subClassOf
MONDO:0018792
obsolete Moyamoya syndrome (obsolete MONDO:0018792)
excluded_subClassOf
MONDO:0020182
obsolete palpebral tumor with a vascular malformation (obsolete MONDO:0020182)
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0005267
heart disorder
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0020022
central nervous system malformation
is_a
P-CIIS
related
Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities
related
pascual-Castroviejo syndrome type 2
exact
pascual-Castroviejo type II syndrome
related