|
| |
Mandibulofacial Dysostosis |
| |
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 ophthalmologist.
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.
|
|
