Treacher Collins syndrome

Also known as: Mandibulofacial dysostosis

Craniofacial malformation with downslanting eyes and hearing loss.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric genetics
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: POLR1C, POLR1D, TCOF1

Etiology & mechanism

Impaired ribosome biogenesis causing neural crest apoptosis.

Gene(s) involved (3)

POLR1CPOLR1DTCOF1

Symptoms & signs (6)

cleft palateconductive hearing lossdownslanting palpebral fissuresmalar hypoplasiamicrognathiamicrotia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.