Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Loeys-Dietz syndrome


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

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. The disease is caused by mutations in the TGFBR1, the TGFBR2,  the SMAD3 or the TGFB2 genes.[1] It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. Many specialists may be involved for the best managment of the patient.
Last updated: 10/2/2015

References

  1. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. GeneReviews. July 11, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1133/. Accessed 10/2/2015.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Loeys-Dietz syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Loeys-Dietz aortic aneurysm syndrome
  • Aortic aneurysm syndrome, Loeys-Dietz type
  • Furlong 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.