Other Names for this Disease
- Pascual-Castroviejo type II syndrome
- PHACE association
- PHACES association
- Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities
PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects. People with PHACE syndrome may have Posterior fossa brain malformations, Hemangioma, Arterial lesions (blood vessel abnormalities in the head or neck), Cardiac (heart) abnormalities/aortic coarctation, and Eye abnormalities. Symptoms and symptom severity may vary from person to person. The cause of the condition is currently unknown. It affects girls much more often than boys.
- PHACE syndrome. Children's Hospital of Wisconsin. .; http://www.chw.org/display/PPF/DocID/28483/router.asp. Accessed 11/14/2012.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about PHACE syndrome. We will answer your question and update these pages with new resources and information.
On this page
- The Childrens Craniofacial Association offers a booklet titled, A Guide to Understanding Hemangiomas. Click on Childrens Craniofacial Association to view a PDF copy of the booklet.
- The Children's Hospital of Wisconsin Web site provides detailed information on PHACE association for people with this condition and their families. Click on the link above to access this page.
In Depth Information
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss PHACE syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss PHACE syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Judd CD, Chapman PR, Koch B, Shea CJ. Intracranial infantile hemangiomas associated with PHACE syndrome. AJNR Am J Neuroradiol. 2007 Jan;28(1):25-9. (PDF)
- Church DG, Lowe LH. Case 103: PHACE syndrome. Radiology. 2006 Dec;241(3):939-42.
- Drolet BA, Dohil M, Golomb MR, Wells R, Murowski L, Tamburro J, Sty J, Friedlander SF. Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association. Pediatrics. 2006 Mar;117(3):959-64. (PDF)
- Haggstrom AN, Lammer EJ, Schneider RA, Marcucio R, Frieden IJ. Patterns of Infantile Hemangiomas: New Clues to Hemangioma Pathogenesis and Embryonic Facial Development. Pediatrics. Mar 2006; 117: 698 - 703. (PDF)
- Bronzetti G et al., Ipsilateral Hemangioma and Aortic Arch Anomalies in Posterior Fossa Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta, and Cardiac Defects and Eye Abnormalities (PHACE) Anomaly: Report and Review. Pediatrics. Feb 2004; 113: 412 - 415. (PDF)
- PHACEing the Future Conference (Series 2)
PHACE Syndrome Imaging Basics (Craig Johnson, DO)
Arterial Anomalies in PHACE Syndrome (Christopher Hess, MD, PhD)
Advocating, Resources, Online Support and Insurance (Karla Hall, NOVA)
- PHACEing the Future Conference (Series 1)
Treatment of Infantile Hemangiomas in PHACE Syndrome (Beth Drolet, MD)
PHACE Syndrome-Where we have been-Where we are going (Ilona Frieden, MD)
Laser Treatment for Hemangiomas: Sorting Through the Myths (Maria Garzon, MD)
- PHACEing the Future Conference (Series 3)
Child Adjustment and Self Concept (Patricia Marik, PsyD)
Parent and Family Adjustment (Jennifer Hoag, PhD),
Update on PHACE Syndrome (Denise Metry, MD)
- PHACEing the Future Conference (Series 4)
Neurological Implications of PHACE Syndrome (Sunila O'Connor, MD)
PHACE Syndrome and Genetic Research (Dawn Siegel, MD)
Question and Answer Period