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.
Synonyms
Eponyms:
- Berry's syndrome (after Dr. George Andreas Berry)
- Berry-Treacher Collins syndrome
- Franceschetti’s syndrome I (after Dr. Adolphe Franceschetti)
- Franceschetti-Klein syndrome (after Dr. David Klein)
- Franceschetti-Zwahlen syndrome (after Dr. P. Zwahlen)
- Franceschetti-Zwahlen-Klein syndrome
- Thomson complex (after Dr. Allen Thomson)
- Treacher Collins syndrome
- Treacher Collins-Franceschetti syndrome
Descriptive:
- Bilateral facial agenesis
- dysostosis mandibulofacialis
- eyelid-malar-mandible syndrome
- incomplete mandibulofacial syndrome (Franceschetti)
- mandibulofacial dysostosis syndrome
- mandibulofacial syndrome
References
Last updated: 08-21-2005 02:04:54
