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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). 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. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. 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.
This condition affects an estimated 1 in 50,000 people.
Mutations in the TCOF1 gene cause Treacher Collins syndrome.
The TCOF1 gene provides instructions for making a protein called treacle. Although researchers have not determined the precise function of this protein, they believe that it plays a critical role before birth in the development of bones and other tissues in the face. Mutations in the TCOF1 gene reduce the amount of treacle that is produced in cells. Researchers believe that a loss of this protein signals cells that are important for the development of facial bones to self-destruct (undergo apoptosis). This abnormal cell death may lead to the specific problems with facial development found in 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. These cases occur in people with no history of the disorder in their family. In the remaining cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent.
'''Treacher Collins syndrome''' is a rare genetic disorder characterized by craniofacial deformities. It is also known as Treacher Collins-Franceschetti Syndrome and mandibulofacial dysostosis. Treacher Collins syndrome is found in 1 in every 10,000 births. The typical physical features include downward slanting eyes, a small lower jaw, and malformed or absent ears. Its most common name is after Dr Edward Treacher Collins (1862-1932), English surgeon and ophthalmology. The disease is caused by mutations in the '''TCOF1'' gene (chromosome 5q32-q33.1). The protein coded by this gene has been hypothesised to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face.
Treacher Collins Syndrome - A Personal View - Information, personal insight, discussion forum and the exclusive "TCS Around the World" feature.
The Treacher Collins Family Support Group - Information regarding the syndrome, genetics, hearing aids, links and support groups.
Treacher Collins Connection - Building a community of people with Treacher Collins syndrome and their families in an environment that transforms people through face to face sharing of experiences, heartaches, and love.
Treacher Collins Foundation - An organization of families, individuals, and professionals who are developing and sharing knowledge about Treacher Collins syndrome.
The Real Meg - A website about a young woman with Treacher Collins Syndrome, her interests and music taste.