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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Loeys-Dietz syndrome


Other Names for this Disease
  • Aortic aneurysm syndrome, Loeys-Dietz type
  • Furlong syndrome
  • Loeys-Dietz aortic aneurysm syndrome
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Overview


Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner. with variable clinical expression.[1]

This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. Mutations in the TGFBR1 and the TGFBR2 gene have been found to cause both types of Loeys-Dietz syndrome.[1]
Last updated: 5/12/2011

References

  1. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. GeneReviews. April 2008; http://www.ncbi.nlm.nih.gov/books/NBK1133/. Accessed 5/12/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Loeys-Dietz syndrome. This website is maintained by the National Library of Medicine.
  • Johns Hopkins has information on Loeys-Dietz syndrome on their Web site. You can click on the link to view this information page.
  • The National Marfan Foundation has information on Loeys-Dietz syndrome on their Web site. You can click on the link to view this information page.
  • Loeys-Dietz Syndrome Foundation is a non-profit advocacy organization for this condition, and they provide medical information on their website.

In Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.