C Syndrome

Common Name(s)

C Syndrome

The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by {11:Kaname et al., 2007}). C syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome ({605039}), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene ({612990}) on chromosome 20q11.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "C Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "C Syndrome" returned 372 free, full-text research articles on human participants. First 3 results:

Unilateral nevoid telangiectasia syndrome (UNTS) associated with chronic hepatitis C virus and positive immunoreactivity for VEGF.
 

Author(s): J A Smith, F Kamangar, N Prakash, M A Fung, T Konia, N Fazel

Journal:

 

Unilateral Nevoid Telangectasia Syndrome (UNTS) is characterized by superficial telangiectasias in a unilateral distribution. Vascular endothelial growth factor (VEGF) may play a role in the pathogenesis of UNTS in patients with underlying hepatic disease. We report a case of a patient ...

Last Updated: 20 Jun 2014

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Change in growth differentiation factor 15, but not C-reactive protein, independently predicts major cardiac events in patients with non-ST elevation acute coronary syndrome.
 

Author(s): Alberto Dominguez-Rodriguez, Pedro Abreu-Gonzalez, Idaira F Hernandez-Baldomero, Pablo Avanzas, Francisco Bosa-Ojeda

Journal: Mediators Inflamm.. 2014 ;2014():929536.

 

Among the numerous emerging biomarkers, high-sensitivity C-reactive protein (hsCRP) and growth-differentiation factor-15 (GDF-15) have received widespread interest, with their potential role as predictors of cardiovascular risk. The concentrations of inflammatory biomarkers, however, ...

Last Updated: 19 May 2014

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The sequence-specific transcription factor c-Jun targets Cockayne syndrome protein B to regulate transcription and chromatin structure.
 

Author(s): Robert J Lake, Erica L Boetefuer, Pei-Fang Tsai, Jieun Jeong, Inchan Choi, Kyoung-Jae Won, Hua-Ying Fan

Journal:

 

Cockayne syndrome is an inherited premature aging disease associated with numerous developmental and neurological defects, and mutations in the gene encoding the CSB protein account for the majority of Cockayne syndrome cases. Accumulating evidence suggests that CSB functions in transcription ...

Last Updated: 18 Apr 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 "C Syndrome" returned 10 free, full-text review articles on human participants. First 3 results:

Protein kinase C and acute respiratory distress syndrome.
 

Author(s): Mark J Mondrinos, Paul A Kennedy, Melanie Lyons, Clifford S Deutschman, Laurie E Kilpatrick

Journal: Shock. 2013 Jun;39(6):467-79.

 

The acute respiratory distress syndrome (ARDS) is a major public health problem and a leading source of morbidity in intensive care units. Lung tissue in patients with ARDS is characterized by inflammation, with exuberant neutrophil infiltration, activation, and degranulation that ...

Last Updated: 17 May 2013

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Role of C-reactive protein in contributing to increased cardiovascular risk in metabolic syndrome.
 

Author(s): Sridevi Devaraj, Simona Valleggi, David Siegel, Ishwarlal Jialal

Journal: Curr Atheroscler Rep. 2010 Mar;12(2):110-8.

 

Metabolic syndrome is associated with increased propensity for diabetes and cardiovascular disease. Low-grade inflammation is characteristic of metabolic syndrome. C-reactive protein, the best characterized biomarker of inflammation, is also an independent predictor of future cardiovascular ...

Last Updated: 28 Apr 2010

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Human C-reactive protein and the metabolic syndrome.
 

Author(s): Sridevi Devaraj, Uma Singh, Ishwarlal Jialal

Journal: Curr. Opin. Lipidol.. 2009 Jun;20(3):182-9.

 

Low-grade inflammation is characteristic of the metabolic syndrome (MetS). C-reactive protein (CRP), the best characterized biomarker of inflammation, is also an independent predictor of future cardiovascular events. The purpose of this review is to outline the role of inflammation ...

Last Updated: 12 May 2009

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Increasing Cure Rate of Hepatitis C Therapy in Obese Hepatitis C Patients
 

Status: Recruiting

Condition Summary: Obesity; Insulin Resistance; Metabolic Syndrome; Hepatitis C

 

Last Updated: 26 Mar 2009

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MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Rett Syndrome; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 18 Jul 2014

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