PHACE(S) Syndrome

PHACE(S) syndrome is an acronym for

• Posterior fossa malformations: Dandy-Walker malformation, ipsilateral cerebellar hypoplasia, and cerebellar vermian hypoplasia and cortical dysgenesis
• Hemangiomas: Large segmental or plaquelike hemangiomas of the scalp and face, most commonly along the trigeminal dermatome.
• Arterial anomalies: Persistent primitive fetal arteries (e.g., persistent trigeminal artery), agenesis of the internal carotid or vertebral arteries (more commonly ipsilateral to hemangiomas), anomalous branches of the internal carotid artery, cerebral aneurysms, and intracranial internal carotid artery and central branch stenoses.
• Cardiac defects: Coarctation of the aorta, ventricular septal defects, and patent ductus arteriosus.
• Eye abnormalities:
• Sternal clefting: Less common feature.

References

Church DG, Lowe LH. Case 103: PHACE syndrome. Radiology. 2006 Dec;241(3):939-42.