Treacher-Collins syndrome

(redirected from Collins syndrome)

Treacher-Collins syndrome

A disorder of craniofacial development (OMIM:154500) characterised by bilateral downwardly slanting palpebral fissures, colobomas of lower eyelids with few eyelashes medial to the defect, hypoplasia of facial bones, cleft palate, malformation of external ears, external auditory canal atresia, and bilateral conductive hearing loss.

Molecular pathology
Defects of TCOF1, which encodes a nucleolar protein involved in ribosomal DNA gene transcription, cause Treacher Collins syndrome.
References in periodicals archive ?
These devices are also used to reconstruct genetic defects such as cleft palate, Down syndrome, and Treacher Collins syndrome.
This will be the first full-length feature horror movie directed by a black, disabled female filmmaker," says Edwards, who has Treacher Collins syndrome (TCS).
Brian, of Edinburgh, who has the congenital disorder Treacher Collins syndrome, said: "I've noticed a huge difference in the range of sounds I can hear.
Brian, from Edinburgh, was born with Treacher Collins syndrome.
Hogg was born with Treacher Collins Syndrome, meaning he could not wear conventional hearing aids as they are styled to fit in and around the top and middle of the ear.
Two cases of children with Treacher Collins syndrome (mandibulofacial dysostosis) are presented, to illustrate the features of the syndrome.
Born with the rare genetic condition Treacher Collins Syndrome, he had a tracheotomy at just six days old and spent his first five months in hospital.
Tori Rosheen, 11, of Golcar, has worn a hearing aid from a young age after doctors discovered she suffered from Treacher Collins syndrome and had a hearing impairment.
Nagamine and Kurahashi (4) published a report on use of 3DCT for a patient with Treacher Collins syndrome.
She was nominated by Sarah Scott, director of music at Sacred Heart, who said: "Felicity was born with a condition called Treacher Collins Syndrome, which has caused some facial deformity resulting in hearing loss and difficulty with breathing.
Over this time we've heard the fascinating yet heartbreaking stories of Manuel Uribe, who became a household name after famously weighing in at 88 stone, Indian Aditya Dev who rose to international stardom as a bodybuilder despite standing tall at only 2'9' and the girl without a face, five-year-old Juliana who had the most severe case of Treacher Collins syndrome ever seen.
Connie, who is seven and who lives with her mum and dad Lee in Walton, has Treacher Collins Syndrome.

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