Everything about Treacher Collins Syndrome totally explained
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.
Cause
One known cause of this syndrome is a
mutation in the
TCOF1 gene, at
chromosome 5-q32-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.
Symptoms
The symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals 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 an opening in the roof of the mouth, called a
cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's
airway, causing potentially life-threatening respiratory problems.
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 they can't 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.
Trivia
Treacher Collins syndrome was featured in the 2005 Discovery Channel documentary, UNMASKED: Treacher Collins Syndrome. As of 2008, it's still being shown on Discovery Health and the TLC Channels. The disorder was also featured on the show Nip/Talk, in the episode called "Blu Mondae"
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
http://www.tcconnection.org is a website for the Treacher Collins community.
Treacher Collins Syndrome was featured in the 2006
Nip/Tuck episode .
Juliana Wetmore was born with this syndrome. She is featured in
TLC's "Born Without A Face.", in which she's missing 30%-40% of bones in her face.
Further Information
Get more info on 'Treacher Collins Syndrome'.
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