| PHACE Syndrome | |
|---|---|
| Other names | Pascual–Castroviejo type II syndrome, P-CIIS, Pascual–Castroviejo syndrome type 2[1] |
| Specialty | Medical genetics  |
PHACE syndrome is a medical condition characterized by uncommon associations between birth defects of the brain, skin (large facial infantile hemangiomas), arteries, heart and eyes. "PHACE" is an acronym for the parts of the body the syndrome usually impacts:
- Posterior fossa abnormalities and other structural brain abnormalities.
- Hemangioma(s) of the cervical facial region.
- Arterial cerebrovascular anomalies.
- Cardiac defects, aortic coarctation and other aortic abnormalities.
- Eye anomalies.[2]
Sometimes an "S" is added to PHACE making the acronym PHACES; with the "S" standing for "Sternal defects" and/or "Supraumbilical raphe." PHACE syndrome may affect infants with large plaque-type facial hemangiomas.[3] Children who present this skin condition should receive careful ophthalmologic, cardiac, and neurologic assessment. According to one study of infants with large hemangiomas, one-third have symptoms consistent with the diagnosis of PHACE syndrome. The most common are cerebrovascular and cardiovascular anomalies.[4]
- ^ "PHACE syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 27 April 2019.
- ^ Cite error: The named reference
:0was invoked but never defined (see the help page). - ^ Metry, DW; Dowd, CF; Barkovich, AJ; Frieden, IJ (2001). "The many faces of PHACE syndrome". The Journal of Pediatrics. 139 (1): 117–23. doi:10.1067/mpd.2001.114880. PMID 11445804.
- ^ Haggstrom, AN; Garzon, MC; Baselga, E; Chamlin, SL; Frieden, IJ; Holland, K; Maguiness, S; Mancini, AJ; McCuaig, C; Metry, DW; Morel, K; Powell, J; Perkins, SM; Siegel, D; Drolet, BA (2010). "Risk for PHACE syndrome in infants with large facial hemangiomas". Pediatrics. 126 (2): e418–26. doi:10.1542/peds.2009-3166. PMID 20643720. S2CID 25928589.