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.

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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 "C Syndrome" returned 429 free, full-text research articles on human participants. First 3 results:

Metabolic Syndrome-Associated Risk Factors and High-Sensitivity C-Reactive Protein Independently Predict Arterial stiffness in 9903 Subjects With and Without Chronic Kidney Disease.
 

Author(s): Sung-Sheng Tsai, Yu-Sheng Lin, Chia-Pin Lin, Jawl-Shan Hwang, Lung-Sheng Wu, Pao-Hsien Chu

Journal: Medicine (Baltimore). 2015 Sep;94(36):e1419.

 

Metabolic syndrome (MS), high-sensitivity C-reactive protein (hs-CRP), and chronic kidney disease (CKD) are related to cardiovascular diseases. Although MS is common in CKD subjects, the contribution of MS-associated risk factors and hs-CRP to arterial stiffness in CKD has not been ...

Last Updated: 11 Sep 2015

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[Association of metabolic syndrome with serum cystatin C in people undergoing health examination].
 

Author(s): Yaqin Wang, Xia Cao, Pingting Yang, Ming Chen, Zhiheng Chen

Journal: Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2015 Jul;40(7):742-7.

 

To investigate the relationship between metabolic syndrome (MetS) and cystatin C in people undergoing healthy examination.


Last Updated: 13 Aug 2015

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Association of a variant in the regulatory region of NADPH oxidase 4 gene and metabolic syndrome in patients with chronic hepatitis C.
 

Author(s): Erika Rabelo Forte de Siqueira, Luciano Beltrao Pereira, Jose Tadeu Stefano, Thiago Patente, Ana Mercedes Cavaleiro, Luydson Richardson Silva Vasconcelos, Rodrigo Feliciano Carmo, Leila Maria Moreira Beltrao Pereira, Flair Jose Carrilho, Maria Lucia Corrêa-Giannella, Claudia P Oliveira

Journal:

 

Given the important contribution of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system to the generation of reactive oxygen species induced by hepatitis C virus (HCV), we investigated two single nucleotide polymorphisms (SNPs) in the putative regulatory region ...

Last Updated: 19 Apr 2015

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

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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The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
 

Author(s): Victoria Nesbitt, Patrick J Morrison, Ellen Crushell, Deirdre E Donnelly, Charlotte L Alston, Langping He, Robert McFarland, Robert W Taylor

Journal: Dev Med Child Neurol. 2012 Jun;54(6):500-6.

 

Mitochondrial respiratory chain diseases represent one of the most common inherited neurometabolic disorders of childhood, affecting a minimum of 1 in 7500 live births. The marked clinical, biochemical, and genetic heterogeneity means that accurate genetic counselling relies heavily ...

Last Updated: 10 May 2012

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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: 16 Sep 2014

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MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
 

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; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 22 Jan 2016

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