Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 05-07-2017
Symbol TCSPC
Location 6p21.1
Name Treacher Collins syndrome, POLR1C related
Other name(s) Treacher Collins syndrome 3
Corresponding gene POLR1C
Other symbol(s) TCS3
Main clinical features disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss
Genetic determination autosomal recessive
Function/system disorder ear
eye
osteo-articular
Type malformation
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
      in3/250 TCS patients
Remark(s)