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Diseases

Genetic and Rare Diseases Information Center (GARD)

Currarino triad


Other Names for this Disease
  • Currarino syndrome
  • Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation
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Overview

Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningocele or both. However only 1 out of 5 cases of Currarino triad has all three abnormalities present.[1][2]

Currarino triad is considered a spectrum disorder with a wide variation in severity. Up to one-third of the patients are asymptomatic and may only be diagnosed during adulthood only on X-rays and ultrasound examinations that are performed for different reasons.[1][2] Currarino triad is most often caused by mutations in the MNX1 gene.[3] Treatment depends on the type and severity of abnormalities present, but may involve surgery.[1][2][3]
Last updated: 3/30/2016

References

  1. Patel RV, De Coppi P, Kiely E, and Pierro A. Currarino's syndrome in twins presenting as neonatal intestinal obstruction--identical presentation in non-identical twins. BMJ Case Rep. September 8 2014; http://www.ncbi.nlm.nih.gov/pubmed/25199187.
  2. Akay S, Battal B, Karaman B, and Bozkurt Y. Complete Currarino Syndrome Recognized in Adulthood. Journal of Clinical Imaging Science. 2015; 5:10. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374199/.
  3. Cuturilo G, Hodge JC, Runke CK, Thorland EC, Al-Owain MA, Ellison JW, and Babovic-Vuksanovic D. Phenotype analysis impacts testing strategy in patients with Currarino syndrome. Clin Genet. January 2016; 89(1):109-114. http://www.ncbi.nlm.nih.gov/25691298.
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In Depth Information

  • 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 Currarino triad. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Currarino syndrome
  • Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.