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

[Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome].
 

Author(s): Chen Yuanjiao, Li Chen-Jun

Journal: Hua Xi Kou Qiang Yi Xue Za Zhi. 2016 Aug;34(4):346-349.

 

This study aims to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS), then further confirm the genetic basis for the phenotype of PLS, and obtain genetic information that can be used as guide in the ...

Last Updated: 20 Mar 2017

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Association of body mass index, waist circumference, and metabolic syndrome with serum cystatin C in a Chinese population.
 

Author(s): Xin Ying, Yan Jiang, Guangming Qin, Yafang Qian, Xiaoru Shen, Zhenyan Jiang, Shu Zheng, Zhenya Song

Journal: Medicine (Baltimore). 2017 Mar;96(10):e6289.

 

The aim of the study was to evaluate the association of body mass index (BMI), waist circumference (WC), and metabolic syndrome (MetS) with serum cystatin C (CysC) in a Chinese population.

Last Updated: 8 Mar 2017

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[Association of C reactive protein levels with metabolic syndrome in adults: a population-based study].
 

Author(s): Patricia Bustos, Bernardita Rosas, Pablo Román, Juan Villagrán, Hugo Amigo

Journal: Rev Med Chil. 2016 Oct;144(10):1239-1246.

 

Metabolic syndrome is highly prevalent among adults in Chile and represents a health risk.

Last Updated: 11 Jan 2017

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

Testing the validity of preventing chronic regional pain syndrome with vitamin C after distal radius fracture. [Corrected].
 

Author(s): Sunitha Malay, Kevin C Chung

Journal: J Hand Surg Am. 2014 Nov;39(11):2251-7.

 

The American Academy of Orthopaedic Surgeons recommends the use of vitamin C to prevent complex regional pain syndrome (CRPS) for patients with distal radius fractures (DRFs). We hypothesized that the evidence for supporting this recommendation is weak, based on epidemiological principles ...

Last Updated: 2 Dec 2014

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Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.
 

Author(s): Rebecca J Levy, Purificación Gutierrez Ríos, Hasan O Akman, Monica Sciacco, Darryl C De Vivo, Salvatore DiMauro

Journal: J. Child Neurol.. 2014 Oct;29(10):NP105-10.

 

We report an unusual case of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of clinical phenotypes ranging from infant lethality to adult onset. Despite infantile onset and severe symptoms, our patient ...

Last Updated: 22 Sep 2014

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Serum Tenascin-C Concentration in Patients With Acute Coronary Syndrome
 

Status: Not yet recruiting

Condition Summary: Acute Coronary Syndrome

 

Last Updated: 6 May 2016

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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: 26 Jun 2017

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PRAsugrel or clopIdogrel in Acute Coronary SyndromE Patients With CYP2C19 Polymorphism
 

Status: Recruiting

Condition Summary: Acute Coronary Syndromes

 

Last Updated: 25 Oct 2016

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