Loeys-Dietz Syndrome

Common Name(s)

Loeys-Dietz Syndrome

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.

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Loeys-Dietz Syndrome" for support, advocacy or research.

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Canadian Marfan Association

Increasing awareness, saving lives, and improving the quality of life for patients, their families, and medical professionals affected by Marfan syndrome, genetic aortic disorders, and related connective tissue disorders through national programs of education, support, and research.

Last Updated: 22 Jan 2013

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Loeys Dietz Syndrome Foundation

The Loeys-Dietz Syndrome Foundation (LDSF) is a 501(c)3 nonprofit organization dedicated to bringing greater awareness to Loeys-Dietz syndrome (LDS) by encouraging education, fostering research and providing support for those impacted by LDS.

Last Updated: 5 May 2014

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Loeys-Dietz Syndrome" for support, advocacy or research.

Logo
Canadian Marfan Association

Increasing awareness, saving lives, and improving the quality of life for patients, their families, and medical professionals affected by Marfan syndrome, genetic aortic disorders, and related connective tissue disorders through national programs of education, support, and research.

http://www.marfan.ca

Last Updated: 22 Jan 2013

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Loeys Dietz Syndrome Foundation

The Loeys-Dietz Syndrome Foundation (LDSF) is a 501(c)3 nonprofit organization dedicated to bringing greater awareness to Loeys-Dietz syndrome (LDS) by encouraging education, fostering research and providing support for those impacted by LDS.

http://www.loeysdietz.org/en/

Last Updated: 5 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Loeys-Dietz Syndrome" returned 22 free, full-text research articles on human participants. First 3 results:

Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
 

Author(s): Elena M Gallo, David C Loch, Jennifer P Habashi, Juan F Calderon, Yichun Chen, Djahida Bedja, Christel van Erp, Elizabeth E Gerber, Sarah J Parker, Kimberly Sauls, Daniel P Judge, Sara K Cooke, Mark E Lindsay, Rosanne Rouf, Loretha Myers, Colette M ap Rhys, Kathleen C Kent, Russell A Norris, David L Huso, Harry C Dietz

Journal: J. Clin. Invest.. 2014 Jan;124(1):448-60.

 

Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is characterized by a high risk for aneurysm and dissection throughout the arterial tree and phenotypically resembles Marfan syndrome. LDS is caused by heterozygous missense mutations in either TGF-β receptor gene (TGFBR1 ...

Last Updated: 2 Jan 2014

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Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls.
 

Author(s): Atsushi K Kono, Masahiro Higashi, Hiroko Morisaki, Takayuki Morisaki, Hiroaki Naito, Kazuro Sugimura

Journal:

 

Dural ectasia is well recognized in Marfan syndrome (MFS) as one of the major diagnostic criteria, but the exact prevalence of dural ectasia is still unknown in Loeys-Dietz syndrome (LDS), which is a recently discovered connective tissue disease. In this study, we evaluated the prevalence ...

Last Updated: 2 Oct 2013

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Loeys-Dietz syndrome with bilateral radial head dislocations: a case report.
 

Author(s): Tarush Rustagi, Mandar V Agashe, Jaideep Dhamele, Alaric J Aroojis, Rujuta Mehta

Journal: J Orthop Surg (Hong Kong). 2013 Aug;21(2):262-5.

 

Loeys-Dietz syndrome is characterised by vascular aneurysms, hypertelorism, and a bifid uvula. We report on an 11-year-old boy with Loeys-Dietz syndrome who presented with bilateral radial head dislocations and severe osteopaenia with changes of avascular necrosis in both hips causing ...

Last Updated: 9 Sep 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Loeys-Dietz Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
 

Status: Not yet recruiting

Condition Summary: Marfan Syndrome; Loeys-Dietz Syndrome; Thoracic Aortic Aneurysm and Dissection Syndromes; Ehlers-Danlos Type IV Syndrome; Turner Syndrome

 

Last Updated: 8 Aug 2014

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