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Genetic and Rare Diseases Information Center (GARD)

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Arterial tortuosity syndrome


Other Names for this Disease
  • Arterial tortuosity
  • ATS
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

Arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). It is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). Other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia). Other features include joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures),  soft and stretchable skin, long, slender fingers and toes (arachnodactyly); curvature of the spine (scoliosis); or a chest that is either sunken (pectus excavatum) or protruding (pectus carinatum), protrusion of organs through gaps in muscles (hernias), elongation of the intestines, or pouches called diverticula in the intestinal walls. People with arterial tortuosity syndrome often look older than their age and have distinctive facial features. The cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus). Arterial tortuosity syndrome is caused by alterations (mutations) in the SLC2A10 gene.[1] Aneurysms and focal stenoses are corrected with surgery. Many specialists may be needed for the best managment of the condition.[2]
Last updated: 7/4/2015

References

  1. Arterial tortuosity syndrome. Genetics Home Reference. January, 2013; http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome. Accessed 7/3/2015.
  2. Callewaert B, De Paepe A & Coucke P. Arterial Tortuosity Syndrome. Gene Reviews. November 13, 2014; http://www.ncbi.nlm.nih.gov/books/NBK253404/. Accessed 7/3/2015.
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Basic Information

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

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