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treacher-collins [2026/03/16 16:25] – Scott Larsontreacher-collins [2026/03/23 17:47] (current) – [Etiology] Scott Larson
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-=====Treacher-Collins Syndrome (Mandibulofacial dystosis)===== +=====Treacher-Collins Syndrome ===== 
-a.k.a. Treacher-Collins-Franceschetti +a.k.a. Treacher-Collins-Franceschetti, Mandibulofacial dystosis
  
-{{ ::treacher-collins.jpg?400 |}} +{{::treacher-collins.jpg?200 |}}
-Main Features+
  
 +====Main Features====
 Bilateral characteristic facial features: malar and mandibular hypoplasia, microstomia, coloboma of outer third of lower lid, external and middle ear anomalies 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) +====Eye Findings==== 
-Lids: Coloboma of outer 1/3 of lower lid, lack of cilia of medial lower lid, absence of lower puncta, absence of meibomian glands +  * External: lateral canthus displaced downward (antimongolid slant) 
- Iris: coloboma +  * Lids: Coloboma of outer 1/3 of lower lid, lack of cilia of medial lower lid, absence of lower puncta, absence of meibomian glands 
-Motility: Esotropia +  * Iris: coloboma 
-Etiology+  * Motility: Esotropia
  
-Autosomal Dominant +====Etiology==== 
-Mutation in the 'treacle' gene (TCOF1; 606847) +  * Autosomal Dominant 
-Gene map locus 5q32-q33.1 +  * Mutation in the 'treacle' gene (TCOF1; 606847) 
-35 total reported mutations which represented a detection rate of 60% +  * Gene map locus 5q32-q33.1 
-Incomplete penetrance and variable expressivity +  * 35 reported mutations represent a detection rate of 60% 
-Other Findings+  * Incomplete penetrance and variable expressivity
  
-Zygomatic bone may be absent +====Other Findings====
-Conductive hearing loss +
-Cleft palate +
-Normal intelligence +
-References+
  
-Dixon, M. J. : Treacher Collins syndrome. Hum. Molec. Genet. 1996: 1391-1396, 1996 +  * Zygomatic bone may be absent 
-OMIM: #154500 +  * Conductive hearing loss 
-Photo: American Academy of Ophthalmology+  * 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}}