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Genetic and Rare Diseases Information Center (GARD)

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Char syndrome


Other Names for this Disease

  • CHAR
  • Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
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

Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.[1]
Last updated: 9/15/2011

References

  1. Char syndrome. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition/char-syndrome. Accessed 9/15/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Char syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Char syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CHAR
  • Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.