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Genetic and Rare Diseases Information Center (GARD)

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Oculofaciocardiodental syndrome


Other Names for this Disease

  • ANOP2 (formerly)
  • MAA2 (formerly)
  • MCOPS2
  • Microphthalmia cataracts radiculomegaly and septal heart defects
  • Microphthalmia syndromic 2
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

Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion.[1]
Last updated: 12/21/2012

References

  1. Oculofaciocardiodental syndrome. Genetics Home Reference. May 2008; http://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome. Accessed 12/21/2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

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

Basic Information

  • Genetics Home Reference (GHR) contains information on Oculofaciocardiodental syndrome. This website is maintained by the National Library of Medicine.

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 Oculofaciocardiodental syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ANOP2 (formerly)
  • MAA2 (formerly)
  • MCOPS2
  • Microphthalmia cataracts radiculomegaly and septal heart defects
  • Microphthalmia syndromic 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.