Connective Tissue Disorders

Common Name(s)

Connective Tissue Disorders

Connective tissue is the "cellular glue" inside your body that supports many of its various parts in order to give tissues their shape and keep them strong. Two examples of connective tissue are fat and cartilage. There are more than 200 known connective tissue disorders. Each conncetive tissue disorder may affect different parts of the body such as joints, muscles, and skin. Organs such as the eyes, heart, lungs, or kidneys may also be affected. Some of these disorders may result from an infection, such as cellulits. Scarring is considered a connective tissue disorder and is most commonly caused by injuries or surgery. Other connective tissue disorders result from a mutation or error in a person’s DNA or genes and may run be inherited or run in families. Some examples of genetic connective tissue disorders are osteogenesis imperfecta, Marfan syndrome, Ehlers-Danlos syndrom and pseudoxanthoma elasticum (PXE) . And for others such as scleroderma, the cause is unknown. Treatment options for connective tissue disorders vary due to different parts of the body being affected. Talk with you doctor about developing the best care plan if you or a family member has been diagnosed with a connective tissue disorder.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Connective Tissue Disorders" for support, advocacy or research.

EDSers United

Mission is to develop the Treatment and Research Center for Rare Genetic Conditions. This center will specialize in Ehlers-Danlos Syndrome and will adopt other rare diseases as it grows and advances throughout the years. EDSers United was initially launched in 2010 to generate global awareness and to provide overall support to those affected by Ehlers-Danlos Syndrome. We have always focused on steps to one day be a part of finding a cure for all the types of EDS that currently exist. We are a team of EDSers, Caregivers & Health Care Providers dedicated to establishing a center of excellence.

Last Updated: 25 Feb 2016

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General Support Organizations

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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 "Connective Tissue Disorders" for support, advocacy or research.

EDSers United

Mission is to develop the Treatment and Research Center for Rare Genetic Conditions. This center will specialize in Ehlers-Danlos Syndrome and will adopt other rare diseases as it grows and advances throughout the years. EDSers United was initially launched in 2010 to generate global awareness and to provide overall support to those affected by Ehlers-Danlos Syndrome. We have always focused on steps to one day be a part of finding a cure for all the types of EDS that currently exist. We are a team of EDSers, Caregivers & Health Care Providers dedicated to establishing a center of excellence.

https://www.edsers.org

Last Updated: 25 Feb 2016

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General Support Organizations

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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 "Connective Tissue Disorders" returned 47 free, full-text research articles on human participants. First 3 results:

Segmental Aortic Stiffness in Children and Young Adults With Connective Tissue Disorders: Relationships With Age, Aortic Size, Rate of Dilation, and Surgical Root Replacement.
 

Author(s): Ashwin Prakash, Himanshu Adlakha, Nicole Rabideau, Cara J Hass, Shaine A Morris, Tal Geva, Kimberlee Gauvreau, Michael N Singh, Ronald V Lacro

Journal: Circulation. 2015 Aug;132(7):595-602.

 

Aortic diameter is an imperfect predictor of aortic complications in connective tissue disorders (CTDs). Novel indicators of vascular phenotype severity such as aortic stiffness and vertebral tortuosity index have been proposed. We assessed the relation between aortic stiffness by ...

Last Updated: 18 Aug 2015

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Familial occurrence and heritable connective tissue disorders in cervical artery dissection.
 

Author(s): Stéphanie Debette, Barbara Goeggel Simonetti, Sabrina Schilling, Juan José Martin, Manja Kloss, Hakan Sarikaya, Ingrid Hausser, Stefan Engelter, Tiina M Metso, Alessandro Pezzini, Vincent Thijs, Emmanuel Touzé, Stefano Paolucci, Paolo Costa, Maria Sessa, Yves Samson, Yannick Béjot, Ayse Altintas, Antti J Metso, Dominique Hervé, Christoph Lichy, Simon Jung, Urs Fischer, Chantal Lamy, Armin Grau, Hugues Chabriat, Valeria Caso, Philippe A Lyrer, Christian Stapf, Turgut Tatlisumak, Tobias Brandt, Elisabeth Tournier-Lasserve, Dominique P Germain, Michael Frank, Ralf W Baumgartner, Caspar Grond-Ginsbach, Marie-Germaine Bousser, Didier Leys, Jean Dallongeville, Anna Bersano, Marcel Arnold,

Journal: Neurology. 2014 Nov;83(22):2023-31.

 

In a large series of patients with cervical artery dissection (CeAD), a major cause of ischemic stroke in young and middle-aged adults, we aimed to examine frequencies and correlates of family history of CeAD and of inherited connective tissue disorders.

Last Updated: 25 Nov 2014

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Heritable disorders of connective tissue: introduction to mini-review cluster.
 

Author(s): Jouni Uitto

Journal: Matrix Biol.. 2014 Jan;33():8-9.

 

Last Updated: 24 Feb 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 "Connective Tissue Disorders" returned 12 free, full-text review articles on human participants. First 3 results:

Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling.
 

Author(s): Jason B Wheeler, John S Ikonomidis, Jeffrey A Jones

Journal: Adv. Exp. Med. Biol.. 2014 ;802():107-27.

 

Marfan Syndrome (MFS) and Loeys-Dietz Syndrome (LDS) represent heritable connective tissue disorders that cosegregate with a similar pattern of cardiovascular defects (thoracic aortic aneurysm, mitral valve prolapse/regurgitation, and aortic root dilatation with regurgitation). This ...

Last Updated: 20 Jan 2014

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Next generation diagnostics of heritable connective tissue disorders.
 

Author(s): Amr Salam, Michael A Simpson, Kristina L Stone, Takuya Takeichi, Arti Nanda, Masashi Akiyama, John A McGrath

Journal: Matrix Biol.. 2014 Jan;33():35-40.

 

Finding pathogenic mutations in monogenic diseases represents one of the significant milestones of late 20th century molecular genetics. Mutation data can improve genetic counseling, assist disease modeling and provide a basis for translational research and therapeutics. The logistics ...

Last Updated: 24 Feb 2014

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Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification.
 

Author(s): Qiaoli Li, Qiujie Jiang, Jouni Uitto

Journal: Matrix Biol.. 2014 Jan;33():23-8.

 

Ectopic mineralization of connective tissues is a complex process leading to deposition of calcium phosphate complexes in the extracellular matrix, particularly affecting the skin and the arterial blood vessels and common in age-associated disorders. A number of initiating and contributing ...

Last Updated: 24 Feb 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Evaluation and Treatment of Patients With Connective Tissue Disease
 

Status: Recruiting

Condition Summary: Connective Tissue Disorders

 

Last Updated: 11 May 2016

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Rituximab Versus Cyclophosphamide in Connective Tissue Disease-ILD
 

Status: Recruiting

Condition Summary: Interstitial Lung Disease; Scleroderma; Idiopathic Inflammatory Myositis; Mixed Connective Tissue Disease

 

Last Updated: 6 May 2015

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Undifferentiated Connective Tissue Disease Registry
 

Status: Recruiting

Condition Summary: Undifferentiated Connective Tissue Disease

 

Last Updated: 4 Sep 2014

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