Treacher Collins syndrome

Common Name(s)

Treacher Collins syndrome, Treacher collins syndrome 1

Treacher Collins syndrome is a condition that affects the development of bones and other tissues in the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Mutations in the TCOF1 gene cause Treacher Collins syndrome. This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of cases result from new mutations in the TCOF1 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Treacher Collins syndrome" for support, advocacy or research.

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World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

Last Updated: 7 Nov 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Treacher Collins syndrome" for support, advocacy or research.

Logo
World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

http://www.worldcf.org

Last Updated: 7 Nov 2013

View Details

 

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 "Treacher Collins syndrome" returned 44 free, full-text research articles on human participants. First 3 results:

Associations between speech features and phenotypic severity in Treacher Collins syndrome.
 

Author(s): Pamela Asten, Harriet Akre, Christina Persson

Journal:

 

Treacher Collins syndrome (TCS, OMIM 154500) is a rare congenital disorder of craniofacial development. Characteristic hypoplastic malformations of the ears, zygomatic arch, mandible and pharynx have been described in detail. However, reports on the impact of these malformations on ...

Last Updated: 3 Jun 2014

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Treacher Collins syndrome: sinus of Valsalva aneurysm.
 

Author(s): Nikola Dobrilovic, Antonio B Fernandez, Albert Lin, Arun K Singh

Journal: Circulation. 2013 Jul;128(2):e12-3.

 

Last Updated: 9 Jul 2013

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Eight year follow-up dental treatment in a patient with Treacher Collins syndrome.
 

Author(s): E Ranadheer, K Nagaraju, P Suresh, M Updesh

Journal: J Indian Soc Pedod Prev Dent. ;30(3):254-7.

 

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development characterized by variable involvement of the craniofacial structures derived from the first and second branchial arches. Occurrence of this syndrome is relatively rare with wide variations ...

Last Updated: 24 Dec 2012

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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 "Treacher Collins syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention.
 

Author(s): Paul A Trainor

Journal: Am. J. Med. Genet. A. 2010 Dec;152A(12):2984-94.

 

Of all the babies born with birth defects, approximately one-third display anomalies of the head and face [Gorlin et al., 1990] including cleft lip, cleft palate, small or absent facial and skull bones and improperly formed nose, eyes, ears, and teeth. Craniofacial disorders are a ...

Last Updated: 25 Nov 2010

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Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
 

Author(s): Daisuke Sakai, Paul A Trainor

Journal: Int. J. Biochem. Cell Biol.. 2009 Jun;41(6):1229-32.

 

Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. The syndrome is associated with mutations in the TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. An animal model of the severe form of TCS, ...

Last Updated: 23 Feb 2009

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Treacher Collins syndrome.
 

Author(s): M J Dixon

Journal: Hum. Mol. Genet.. 1996 ;5 Spec No():1391-6.

 

Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. In the absence of a candidate gene, a positional cloning approach has been used to isolate the mutated gene which maps to ...

Last Updated: 13 Jan 1997

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)
 

Status: Recruiting

Condition Summary: Craniofacial Microsomia; Hemifacial Microsomia; Oculo-Auriculo-Vertebral-Syndrome; Goldenhar Syndrome; Microtia

 

Last Updated: 21 Aug 2014

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Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children
 

Status: Recruiting

Condition Summary: Infants; Difficult Airway

 

Last Updated: 10 Aug 2012

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