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

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.
 

Author(s): Thashi Chang, Judith Cossins, David Beeson

Journal:

 

Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically ...

Last Updated: 8 Oct 2016

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TNFR1-383 A˃C polymorphism association with clinical manifestations in primary Sjögren's syndrome patients.
 

Author(s): A L Fletes-Rayas, C A Palafox-Sánchez, J F Muñoz-Valle, G Orozco-Barocio, R E Navarro-Hernández, E Oregon-Romero

Journal:

 

Primary Sjögren's syndrome is an autoimmune disease affecting the function of exocrine glands. Tumor necrosis factor receptor-1 (TNFR1) is involved in apoptosis through extrinsic pathway initiation. The level of soluble TNFR1 is reported increased in rheumatoid arthritis, systemic ...

Last Updated: 21 Jun 2016

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Relationship between C-reactive protein levels and obstructive sleep apnea syndrome.
 

Author(s): Y X Tie, Y Y Fu, Z Xu, Y Peng

Journal:

 

This study aims to determine the relationship between C-reactive protein levels and obstructive sleep apnea syndrome (OSAS). We recruited 30 OSAS patients into the observation group (OSAS group), and subdivided them into mild, moderate and severe groups according to the apnea hypopnea ...

Last Updated: 21 Jun 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 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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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

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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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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