- PHACE association
- PHACES association
- Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities
- Pascual-Castroviejo type II syndrome
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.
- 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.
- 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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.
- 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)