Treacher-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 ?
Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.
It appears that this particular gene is responsible for both Treacher-Collins syndrome and oculo-auriculo-vertebral spectrum but differs within their respective phenotypic expressions.
Robert Ward, a pediatric otolaryngologist, who sent a letter to the Commack defendants stating that the infant would benefit from a referral to an endocrinologist because she might have indicia of symptoms of a rare genetic disease known as Treacher-Collins Syndrome.
Carissa was placed for adoption when she was diagnosed with Treacher-Collins Syndrome - - a genetic disorder resulting in severe deformities of the head.
Louisa was born without ears and profoundly deaf, due to a genetic condition called Treacher-Collins Syndrome.
Louisa, from Shrewsbury, Shropshire, was born severely deaf suffering from a genetic condition called Treacher-Collins Syndrome and, in place of her ears, there were two tiny lobes.
Carissa was placed for adoption when she was diagnosed with Treacher-Collins Syndrome -- a genetic disorder resulting in severe deformities of the head.