Treacher Collins syndrome

Infobox_Disease
Name = Treacher Collins syndrome


Caption =
DiseasesDB = 13267
ICD10 = ICD10|Q|75|4|q|65
ICD9 = ICD9|756.0
ICDO =
OMIM = 154500
MedlinePlus = 001659
eMedicineSubj = plastic
eMedicineTopic = 183
MeshID = D008342

Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. Treacher Collins syndrome is found in 1 in 10,000 births. The typical physical features include downward slanting eyes, a small lower jaw, and malformed or absent ears.

This condition is a result of a defect of the first arch during development.

Eponym

It is named after Edward Treacher Collins (1862–1932), the English surgeon and ophthalmologist who described its essential traits in 1900. [WhoNamedIt|synd|1416]

Cause

One known cause of this syndrome is a mutation in the "TCOF1" gene, at chromosome 5q32-q33.1. The protein coded by this gene is called "treacle" and has been hypothesised to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face. The disorder is inherited in an autosomal-dominant pattern.

ymptoms

The symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected patients have underdeveloped facial bones, which result in a sunken appearance in the middle of the face, a prominent nose, and a very small jaw and chin (micrognathia). Some people with this condition are also born with a cleft palate. In severe cases, the micrognathia may displace the tongue of an affected neonate (new-born) sufficiently to cause obstruction of the oropharynx and potentially life-threatening respiratory problems. The neonate will asphyxiate unless a proper airway is established.

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. People with Treacher Collins Syndrome may also need a feeding tube because some cases are so severe that they cannot swallow. This condition is also characterized by absent, small, or unusually formed ears (pinnae), called microtia. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence.

Therapy

People with the syndrome can undergo surgeries on the face to improve appearance, get hearing aids, and can also undergo surgery on a cleft palate.

Media Portrayals

Treacher Collins syndrome was featured in the 2005 Discovery Channel documentary, UNMASKED: Treacher Collins Syndrome. As of 2008, it is still being shown on Discovery Health and the TLC Channels.

The disorder was also featured on the show Nip/Tuck, in the episode called "Blu Mondae" [ [http://www.tv.com/nip-tuck/blu-mondae/episode/781439/summary.html?tag=ep_list;ep_title;1 Nip/Tuck: Blu Mondae - TV.com ] ]

TLC's "Born Without A Face" [http://www.firstcoastnews.com/news/local/news-article.aspx?storyid=28372 First Coast News: Local Family Has Daughter Born Without a Face] ] features Juliana Wetmore, who was born with this syndrome and is missing 30%-40% of bones in her face. [http://www.firstcoastnews.com/news/local/news-article.aspx?storyid=28372 First Coast News: Local Family Has Daughter Born Without a Face] ]

Links

* http://www.tcconnection.org is a website for the Treacher Collins community.

See also

* Hearing loss with craniofacial syndromes

References