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

[Loeys-Dietz Syndrome, 3 generations, 4 familial cases].
 

Author(s): Carlos F Rosental, Silvina Neiling, Natalia Napoli, Claudia Villalba, Jorge Barretta, Horacio Capelli

Journal: Arch Argent Pediatr. 2017 Aug;115(4):e220-e224.

 

Loeys-Dietz Syndrome is an autosomal dominant disease with aortic aneurysms, arterial tortuosity with hypertelorism and bifid uvula. We describe four familial cases within three generations. The diagnosis, surgical management and followup will be addressed.

Last Updated: 31 Dec 1969

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Functional validation reveals the novel missense V419L variant in associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.
 

Author(s): Margot A Cousin, Michael T Zimmermann, Angela J Mathison, Patrick R Blackburn, Nicole J Boczek, Gavin R Oliver, Gwen A Lomberk, Raul A Urrutia, David R Deyle, Eric W Klee

Journal:

 

TGF-β-related heritable connective tissue disorders are characterized by a similar pattern of cardiovascular defects, including aortic root dilatation, mitral valve prolapse, vascular aneurysms, and vascular dissections and exhibit incomplete penetrance and variable expressivity. ...

Last Updated: 31 Dec 1969

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Generation of an induced pluripotent stem cell line from a Loeys-Dietz syndrome patient with transforming growth factor-beta receptor-2 gene mutation.
 

Author(s): Kui Hu, Jun Li, Kai Zhu, Jinmiao Chen, Dingqian Liu, Yulin Wang, Yongxin Sun, Hao Lai, Chunsheng Wang

Journal: Stem Cell Res. 2017 04;20():115-117.

 

Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder, commonly caused by genetic mutation of transforming growth factor-beta receptor (TGFBR)-1 or TGFBR2. This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral ...

Last Updated: 31 Dec 1969

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

Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.
 

Author(s): A Blinc, A Maver, G Rudolf, J Tasič, J Pretnar Oblak, P Berden, B Peterlin

Journal: Eur J Vasc Endovasc Surg. 2015 Dec;50(6):816-21.

 

In rare genetic vascular syndromes the diagnosis may not be apparent from the phenotype, but might be important for proper management.

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 8 Aug 2018

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Pathogenetic Basis of Aortopathy and Aortic Valve Disease
 

Status: Recruiting

Condition Summary: Aortopathies; Thoracic Aortic Aneurysm; Aortic Valve Disease; Thoracic Aortic Disease; Thoracic Aortic Dissection; Thoracic Aortic Rupture; Ascending Aortic Disease; Descending Aortic Disease; Ascending Aortic Aneurysm; Descending Aortic Aneurysm; Marfan Syndrome; Loeys-Dietz Syndrome; Ehlers-Danlos Syndrome; Shprintzen-Goldberg Syndrome; Turner Syndrome; PHACE Syndrome; Autosomal Recessive Cutis Laxa; Congenital Contractural Arachnodactyly; Arterial Tortuosity Syndrome

 

Last Updated: 7 Aug 2018

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