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

Mean Platelet Volume, Vitamin D and C Reactive Protein Levels in Normal Weight Children with Primary Snoring and Obstructive Sleep Apnea Syndrome.
 

Author(s): Anna Maria Zicari, Francesca Occasi, Federica Di Mauro, Valeria Lollobrigida, Marco Di Fraia, Vincenzo Savastano, Lorenzo Loffredo, Francesco Nicita, Alberto Spalice, Marzia Duse

Journal:

 

Studies on Mean Platelet Volume (MPV) in children with Sleep Disordered Breathing (SDB) report conflicting results and the hypothesis of an intermittent hypoxemia leading to a systemic inflammation is reaching consensus. Vitamin D exerts anti-inflammatory properties and its deficiency ...

Last Updated: 8 Apr 2016

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Is MTHFR 677 C>T Polymorphism Clinically Important in Polycystic Ovarian Syndrome (PCOS)? A Case-Control Study, Meta-Analysis and Trial Sequential Analysis.
 

Author(s): S Justin Carlus, Saumya Sarkar, Sandeep Kumar Bansal, Vertika Singh, Kiran Singh, Rajesh Kumar Jha, Nirmala Sadasivam, Sri Revathy Sadasivam, P S Gireesha, Kumarasamy Thangaraj, Singh Rajender

Journal:

 

Optimum efficiency of the folate pathway is considered essential for adequate ovarian function. 677 C>T substitution in the 5, 10-methylene tertrahydrofolatereductase (MTHFR) gene compromises activity of the MTHFR enzyme by about 50%. The significance of correlation between 677C>T ...

Last Updated: 17 Mar 2016

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Inverse Association of Plasma IgG Antibody to Aggregatibacter actinomycetemcomitans and High C-Reactive Protein Levels in Patients with Metabolic Syndrome and Periodontitis.
 

Author(s): Supanee Thanakun, Suchaya Pornprasertsuk-Damrongsri, Misa Gokyu, Hiroaki Kobayashi, Yuichi Izumi

Journal:

 

The association between clinically diagnosed periodontitis, a common chronic oral infection, and metabolic syndrome has been previously reported. The aim of this study was to investigate the association of plasma IgG levels against Aggregatibacter actinomycetemcomitans, Porphyromonas ...

Last Updated: 13 Feb 2016

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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 16 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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Effect of linaclotide in irritable bowel syndrome with constipation (IBS-C): a systematic review and meta-analysis.
 

Author(s): D K Atluri, A K Chandar, A E Bharucha, Y Falck-Ytter

Journal: Neurogastroenterol. Motil.. 2014 Apr;26(4):499-509.

 

Treatment options for constipation-predominant irritable bowel syndrome (IBS-C) are limited. While linaclotide improved IBS-C symptoms in randomized controlled trials (RCTs), results vary among studies and the magnitude of benefit is unclear.

Last Updated: 19 Mar 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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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: 15 Aug 2016

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