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Genetic and Rare Diseases Information Center (GARD)

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PHACE syndrome


Other Names for this Disease
  • P-CIIS
  • Pascual-Castroviejo syndrome type 2
  • Pascual-Castroviejo type II syndrome
  • PHACE association
  • PHACES association
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects.[1]  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.[1] 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.[1]

Last updated: 11/14/2012

References

  1. PHACE syndrome. Children's Hospital of Wisconsin. .; http://www.chw.org/display/PPF/DocID/28483/router.asp. Accessed 11/14/2012.
Your Questions Answered
by 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.

Basic Information

  • 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.
  • 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.

Selected Full-Text Journal Articles

Other Names for this Disease
  • P-CIIS
  • Pascual-Castroviejo syndrome type 2
  • Pascual-Castroviejo type II syndrome
  • PHACE association
  • PHACES association
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.