PHACES syndrome
Also written as: PHACES — Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects, Eye abnormalities, Sternal cleft
A neurocutaneous syndrome combining posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, and sternal cleft.
Full Definition
PHACES syndrome is a rare neurocutaneous disorder that requires comprehensive imaging evaluation across multiple organ systems. The syndrome presents with posterior fossa brain malformations (particularly Dandy-Walker variant), large segmental facial hemangiomas, arterial anomalies of the head and neck, cardiac defects, eye abnormalities, and sternal clefting or supraumbilical raphe. Pediatric radiologists play a crucial role in diagnosis through coordinated MRI, MRA, echocardiography, and chest imaging. The condition predominantly affects females and requires multidisciplinary care coordination.
Usage
Usage note: Often written with or without the 'S' for sternal involvement.
In Context
- "The large facial hemangioma prompted screening for PHACES syndrome with dedicated brain and neck MRA." — Pediatric radiology report
- "PHACES syndrome was confirmed after identification of ipsilateral cerebral arterial dysplasia on angiography." — Multidisciplinary case discussion