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Diseases

Genetic and Rare Diseases Information Center (GARD)

C syndrome


Other Names for this Disease
  • Opitz trigonocephaly syndrome
  • Trigonocephaly C syndrome
  • Trigonocephaly syndrome
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Overview

C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. This condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene.[1][2]  
Last updated: 6/19/2014

References

  1. C Syndrome. Online Mendelian Inheritance in Man (OMIM). October 25, 2011; http://omim.org/entry/211750. Accessed 6/19/2014.
  2. Kaname T et al.. Amer J Hum Genet. October 2007; 81(4):835-41. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227933/. Accessed 6/19/2014.
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Basic Information

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • 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 C syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Opitz trigonocephaly syndrome
  • Trigonocephaly C syndrome
  • Trigonocephaly syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.