C222356Level 4
PHACE Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A genetic syndrome that occurs more commonly in females and is thought to be caused by unspecified genetic mutation(s) that occur during early development. It is characterized by posterior fossa brain malformations, facial or scalp hemangioma, arterial, cardiac, and eye anomalies, and sternal/ventral midline defects.
**Synonyms:** - Pascual-Castroviejo Type II Syndrome
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