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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 mutation	Chromosome rearrangement	Effect	Comments
			in3/250 TCS patients

Remark(s)