PHACES Syndrome
Characteristics
- Posterior fossa abnormalities, and other brain abnormalities
- Hemangiomas- usually large on the face, can be anywhere in on the face or neck
- Arterial cerebrovascular anomalies
- Cardiac defects, aortic coarctation and other abnormalities
- Eye anomalies
- Sternal defects or supraumbilical raphe
Eye Associations
Posterior segment abnormalities
- Retinal vascular abnormalities
- Persistent fetal retinal vessels
- “Morning-glory” disc.
- Peripapillary staphyloma.
- Optic nerve hypoplasia.
Anterior segment abnormalities
- Coloboma
- Congenital cataracts
- Sclerocornea
- Iris hypoplasia
- Iris vessel hypertrophy
Other
- Microphthalmia
- Exophthalmos
- Congenital third nerve palsy
- Horner syndrome