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

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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Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.
 

Author(s): Marisol Ibarra-Ramirez, Luis Daniel Campos-Acevedo, Jose Lugo-Trampe, Laura E Martínez-Garza, Víctor Martinez-Glez, María Valencia-Benitez, Pablo Lapunzina, Víctor Ruiz-Peréz

Journal:

 

BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. ...

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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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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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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 With CYP2C19 GENEtic Variants
 

Status: Recruiting

Condition Summary: Acute Coronary Syndromes

 

Last Updated: 30 Jan 2018

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