Show pageOld revisionsBacklinksBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. =====Treacher-Collins Syndrome ===== a.k.a. Treacher-Collins-Franceschetti, Mandibulofacial dystosis {{::treacher-collins.jpg?200 |}} ====Main Features==== Bilateral characteristic facial features: malar and mandibular hypoplasia, microstomia, coloboma of outer third of lower lid, external and middle ear anomalies ====Eye Findings==== * External: lateral canthus displaced downward (antimongolid slant) * Lids: Coloboma of outer 1/3 of lower lid, lack of cilia of medial lower lid, absence of lower puncta, absence of meibomian glands * Iris: coloboma * Motility: Esotropia ====Etiology==== * Autosomal Dominant * Mutation in the 'treacle' gene (TCOF1; 606847) * Gene map locus 5q32-q33.1 * 35 reported mutations represent a detection rate of 60% * Incomplete penetrance and variable expressivity ====Other Findings==== * Zygomatic bone may be absent * Conductive hearing loss * Cleft palate * Normal intelligence ====References==== * Dixon, M. J. : Treacher Collins syndrome. Hum. Molec. Genet. 1996: 1391-1396, 1996 * OMIM: #154500 * Photo: American Academy of Ophthalmology {{tag>syndrome}} syndrome