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--- treacher-collins [2026/03/16 16:23] – created Scott Larson
+++ treacher-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?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
-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
+====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====
-Autosomal Dominant
+  * Zygomatic bone may be absent
-Mutation in the 'treacle' gene (TCOF1; 606847)
+  * Conductive hearing loss
-Gene map locus 5q32-q33.1
+  * Cleft palate
-total reported mutations which represented a detection rate of 60%
+  * Normal intelligence
-Incomplete penetrance and variable expressivity
-Other Findings
-Zygomatic bone may be absent
+====References====
-Conductive hearing loss
+  * Dixon, M. J. : Treacher Collins syndrome. Hum. Molec. Genet. 1996: 1391-1396, 1996
-Cleft palate
+  * OMIM: #154500
-Normal intelligence
+  * Photo: American Academy of Ophthalmology
-References
-Dixon, M. J. : Treacher Collins syndrome. Hum. Molec. Genet. 1996: 1391-1396, 1996
+{{tag>syndrome}}
-OMIM: #154500
-Photo: American Academy of Ophthalmology

syndrome