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

The evaluation of body composition, adiponectin, C-reactive protein and cholesterol levels in patients with obstructive sleep apnea syndrome.
 

Author(s): Monika Kosacka, Anna Korzeniewska, Renata Jankowska

Journal: Adv Clin Exp Med. ;22(6):817-24.

 

Obstructive sleep apnea syndrome (OSAS) is a frequent disease, characterized by repetitive episodes of upper airway obstruction during sleep, leading to many pathological events. Adiponectin is an adipocyte-specific secreted protein that plays a role in glucose and lipid homeostasis, ...

Last Updated: 16 Jan 2014

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Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family.
 

Author(s): Pablo Dolz-Gaitón, Mercedes Núñez, Lucía Núñez, Adriana Barana, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, Marta González de la Fuente, Miguel Alvarez-López, Rosa Macías-Ruiz, Luis Tercedor-Sánchez, Juan Jiménez-Jáimez, Eva Delpón, Ricardo Caballero, Juan Tamargo

Journal:

 

We functionally analyzed a frameshift mutation in the SCN5A gene encoding cardiac Na(+) channels (Nav1.5) found in a proband with repeated episodes of ventricular fibrillation who presented bradycardia and paroxysmal atrial fibrillation. Seven relatives also carry the mutation and ...

Last Updated: 23 Dec 2013

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Survival analysis of acquired immune deficiency syndrome patients with and without hepatitis C virus infection at a reference center for sexually transmitted diseases/acquired immune deficiency syndrome in São Paulo, Brazil.
 

Author(s): Wong Kuen Alencar, Paulo Schiavom Duarte, Eliseu Alves Waldman

Journal: Braz J Infect Dis. ;18(2):150-7.

 

Survival of patients with acquired immune deficiency syndrome has improved with combination antiretroviral therapy; mortality due to liver diseases, however, has also increased in these patients.

Last Updated: 18 Mar 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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Investigation of Linaclotide's Effect on the Bi-directional Brain and Gut Axis in IBS-C Patients
 

Status: Recruiting

Condition Summary: Irritable Bowel Syndrome With Constipation (IBS-C)

 

Last Updated: 3 Mar 2014

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