PHACE syndrome

Also known as: PHACES syndrome

Large facial hemangioma with posterior fossa, arterial, cardiac and eye anomalies.

Medical specialty: Dermatology
Subspecialty: Dermatology / Vascular anomalies
Sex & age distribution: Male: affected; Female: affected, 9:1 female predominance; Children: yes, from birth
Gene(s) involved: None recorded

Etiology & mechanism

Developmental disorder of neural crest derived vasculature; mostly sporadic.

Gene(s) involved (0)

No gene recorded.

Symptoms & signs (6)

cerebral arterial anomaliescoarctation of aortaeye anomaliesposterior fossa malformationsegmental facial hemangiomasternal clefting

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.