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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 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 ophthalmologist, who described the essential traits of the syndrome in 1900.
The disease is caused by mutations in the TCOF1 gene (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.
More on [ Treacher Collins syndrome ]
Genetic Disorders
Rare Disorders :: Conditions and Diseases
Watching a show I recorded last week, Born Without a Face. It's about this little girl with a rare disorder called Treacher Collins Syndrome
eNiGMa1986 (Jami Kinyon) Thu, 31 Dec 2009 04:28:20 -0000
Watching a show I recorded last week, Born Without a Face. It's about this little girl with a rare disorder called Treacher Collins Syndrome
Microtia - Congenital Ear Institute - Information on microtia for families and health care providers. Spanish version as alternative.
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 Syndrome - A Personal View - Information, personal insight, discussion forum and the exclusive TCS Around the World feature.
Meta Description: [ A Personal View of TCS ]
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