PHACE association
ORPHA: 42775
Overview
cutaneous condition characterized by multiple congenital abnormalities. ("PHACES"=Posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities–sternal cleft and supraumbilical raphe syndrome)
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with PHACE association, sourced from HPO and Orphanet clinical annotations.
Abnormal cerebral artery morphologyGlaucomaMicrophthalmiaOptic nerve hypoplasiaDandy-Walker malformationAbnormal heart morphologyAbnormal cardiac septum morphologyCerebral arteriovenous malformationMicrocephalyAbnormality of the orbital regionStrabismusPtosisCataractIris colobomaAmblyopiaSclerocorneaAbnormal sternum morphologyHypothyroidismHeterochromia iridisSeizureHypotoniaGlobal developmental delayAgenesis of corpus callosumCerebellar hypoplasiaTetralogy of FallotCoarctation of aortaAortic root aneurysmHemiplegia/hemiparesisCapillary hemangiomaAbnormal carotid artery morphologyDevelopmental retinal vascular malformationEctopic thyroidLens colobomaVisceral angiomatosis
Classification & Codes
Orphanet Code
ORPHA:42775PHACE association
| Orphanet | ORPHA:42775 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO