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 ?
Treacher Collins syndrome (TCS) is a disorder of craniofacial development that affects differentiation of the first and the second pharyngeal arches (1, 2).
The Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis or Franceschetti-Klein (1) syndrome, is a rare syndrome transmitted in an autosomal dominant pattern characterized by the poor development of the supraorbital ridge, maxillary, zygomatic and mandibular hypoplasia and soft tissue of the face (2).
These malformations occur in conditions such as Pierre-Robin sequence, Treacher Collins syndrome, and craniofacial microsomia.
Ashley, who has genetic disorder Treacher Collins syndrome and is an anti-bullying campaigner, received an email from an Undateables researcher asking for his help in the search for people to appear on the show.
Ashley Carter, 17, has bravely spoken out in the media about the difficulties of living withTreacher Collins syndrome, a genetic disorder that causes facial deformity.
Just days after he was born doctors diagnosed Lewis with Treacher Collins syndrome, a rare genetic disorder which affects the development of bones and other tissues of the face.
The film stars Julia Roberts, Owen Wilson and Jacob Tremblay, and it follows a child with Treacher Collins syndrome trying to fit in.
It's currently a film starring Julia Roberts, Owen Wilson, and Jacob Tremblay as the young child with Treacher Collins syndrome - facial disfigurement to you and me - trying to fit in.
People with Treacher Collins syndrome usually have normal intelligence.
A 27-year-old African American woman with Treacher Collins syndrome and bilateral mixed hearing loss had previously undergone left-sided microtia repair, as well as left ear canal atresia repair, with subsequent restenosis and persistent hearing loss.