Treacher Collins syndrome

Common Name(s)

Treacher Collins syndrome, Treacher collins syndrome 1, TCS, Mandibulofacial dysostosis

Treacher Collins syndrome (TCS, mandibulofacial dysostosis) is a genetic disorder that affects the development of the skull and face. This condition results from a mutation or error in a person’s DNA or genes. Symptoms of TCS vary from individual to individual and can range from being almost unnoticeable to severe. People affected with this condition usually have downward slanting eyes, a small lower jaw, and absent or underdeveloped cheekbones and ears. They may also be born with an opening in the roof of the mouth, known as a cleft palate. About half of affected individuals experience hearing loss due to underdeveloped ear bones. In severe cases, infants may experience breathing problems due to underdeveloped breathing pathways and vision loss due to additional eye abnormalities.

People diagnosed with TCS usually have normal levels of intelligence. The condition affects about 1 in 50,000 people. TCS is an autosomal dominant disorder meaning that only one copy of the gene change (mutation) needs to be present for the person to be affected. In 40% of Treacher-Collins cases, one parent is affected. However, about 60% of the cases are due to new mutations in the gene without any previous cases of the disorder in the family history. Each child of an affected individual has a 50% chance of passing on the gene change and therefore TCS. Genetic testing and counseling can help identify gene changes linked to this condition. Treatment of TCS depends on the symptoms and challenges present. Hearing aids are usually given to assist the individuals with any hearing loss. Plastic and/or facial surgery may also be required to aid in any breathing and feeding problems. Although there is currently no cure for TCS, doctors seek help from various therapists and community services to provide support and care. Support groups are also good resources of support and information.

Source: Advocacy organizations associated with the condition.

 

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 Jul 2015

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General Support Organizations

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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 Jul 2015

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

Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.
 

Author(s): Alberto Ciccia, Jen-Wei Huang, Lior Izhar, Mathew E Sowa, J Wade Harper, Stephen J Elledge

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Dec;111(52):18631-6.

 

The signal transduction pathway of the DNA damage response (DDR) is activated to maintain genomic integrity following DNA damage. The DDR promotes genomic integrity by regulating a large network of cellular activities that range from DNA replication and repair to transcription, RNA ...

Last Updated: 31 Dec 2014

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Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia-a comparative study.
 

Author(s): Amy Østertun Geirdal, Solfrid Sørgjerd Saltnes, Kari Storhaug, Pamela Åsten, Hilde Nordgarden, Janicke Liaaen Jensen

Journal: Qual Life Res. 2015 Apr;24(4):927-35.

 

The relationship between quality of life, psychological distress, and orofacial syndromes in children and adolescents has been reported in several studies. However, little is known about differences in psychological distress and quality of life among adults with different orofacial ...

Last Updated: 20 Mar 2015

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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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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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Role of Mesenchymal Stem Cells in Fat Grafting
 

Status: Not yet recruiting

Condition Summary: Romberg's Disease; Craniofacial Microsomia; Lipodystrophy; Mixed Connective Tissue Disease

 

Last Updated: 9 Jul 2015

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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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