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

Metabolic syndrome, C-reactive protein and cardiovascular risk in psoriasis patients: a cross-sectional study.
 

Author(s): Renato Soriani Paschoal, Daniela Antoniali Silva, Renata Nahas Cardili, Cacilda da Silva Souza

Journal: An Bras Dermatol. 2018 Mar;93(2):222-228.

 

Psoriasis has been associated with co-morbidities and elevated cardiovascular risk.

Last Updated: 31 Dec 1969

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High-Sensitivity C-Reactive Protein Combined with Low-Density Lipoprotein Cholesterol as the Targets of Statin Therapy in Patients with Acute Coronary Syndrome.
 

Author(s): Ming Fang, Qiaohui Qian, Zhihong Zhao, Luoning Zhu, Jinwen Su, Xinming Li

Journal: Int Heart J. 2018 Mar;59(2):300-306.

 

To investigate the combination of high-sensitivity C-reactive protein (hs-CRP) and Low-density lipoprotein (LDL)-C as the targets for statin treatment in patients with acute coronary syndrome (ACS). This single-center, prospective, randomized study was performed in 400 patients treated ...

Last Updated: 31 Dec 1969

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A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report.
 

Author(s): Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shu-Han Sun, Shou-Bin Ning

Journal: Medicine (Baltimore). 2017 Dec;96(49):e8591.

 

Peutz-Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an ...

Last Updated: 31 Dec 1969

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

Impact of metformin on C-reactive protein levels in women with polycystic ovary syndrome: a meta-analysis.
 

Author(s): Yong Chen, Meng Li, Hongli Deng, Sheying Wang, Lihua Chen, Ningsha Li, Dan Xu, Qiguang Wang

Journal: Oncotarget. 2017 May;8(21):35425-35434.

 

The impact of the recommended first-line treatment with metformin on C-reactive protein (CRP) levels in patients with polycystic ovary syndrome (PCOS) is still controversial. We conducted a meta-analysis of studies reporting the impact of metformin on serum CRP levels in women with ...

Last Updated: 31 Dec 1969

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Efficacy of vitamin C in preventing complex regional pain syndrome after wrist fracture: A systematic review and meta-analysis.
 

Author(s): F Aïm, S Klouche, A Frison, T Bauer, P Hardy

Journal: Orthop Traumatol Surg Res. 2017 05;103(3):465-470.

 

Complex regional pain syndrome type I (CRPS-I), previously known as reflex sympathetic dystrophy, is common after conservatively or surgically treated wrist fractures. Several studies support the efficacy of vitamin C in preventing CRPS-I, although the data are somewhat conflicting. ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

PRAsugrel or clopIdogrel In Acute Coronary SyndromE With CYP2C19 GENEtic Variants
 

Status: Recruiting

Condition Summary: Acute Coronary Syndromes

 

Last Updated: 30 Jan 2018

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Post-marketing Surveillance of Linaclotide Tablet in Patients With Irritable Bowel Syndrome With Constipation
 

Status: Recruiting

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

 

Last Updated: 14 Mar 2018

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