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 26 free, full-text research articles on human participants. First 3 results:

Valve-sparing aortic root surgery in a patient with Loeys-Dietz syndrome.
 

Author(s): Michael Shpoliansky, Dan Spiegelstein, Amihai Shinfeld, Ehud Raanani

Journal: Isr. Med. Assoc. J.. 2015 Mar;17(3):185-7.

 

Last Updated: 7 May 2015

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Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
 

Author(s): Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Stefano Quinzani, Marina Venturini, Roberto Maroldi, Piergiacomo Calzavara-Pinton, Marina Colombi

Journal:

 

The Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder characterized by thoracic aortic aneurysm and dissection and widespread systemic connective tissue involvement. LDS type 1 to 4 are caused by mutations in genes of the TGF-β signaling pathway: TGFBR1 and TGFBR2 ...

Last Updated: 3 Sep 2014

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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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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 1 free, full-text review articles on human participants. First 3 results:

Loeys-Dietz syndrome: a primer for diagnosis and management.
 

Author(s): Gretchen MacCarrick, James H Black, Sarah Bowdin, Ismail El-Hamamsy, Pamela A Frischmeyer-Guerrerio, Anthony L Guerrerio, Paul D Sponseller, Bart Loeys, Harry C Dietz

Journal: Genet. Med.. 2014 Aug;16(8):576-87.

 

Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide ...

Last Updated: 6 Aug 2014

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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

Natural History and Genetics of Food Allergy and Related Conditions
 

Status: Recruiting

Condition Summary: Food Allergy; Loeys-Dietz Syndrome

 

Last Updated: 21 Jul 2015

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

Status: Recruiting

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

 

Last Updated: 6 Aug 2015

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