Treacher Collins syndrome

Treacher Collins syndrome (TCS), also known as Treacher Collins–Franceschetti syndrome, or mandibulofacial dysostosis, is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones.:577 Treacher Collins syndrome is found in about one in 50,000 births. The typical physical features include downward-slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears. Media portrayals: A July 1977 New York Times article that was reprinted in numerous newspapers nationwide over the ensuing weeks, brought this malady to many people's attention for the first time. While a student at Temple University, Bob Saget directed an 11-minute documentary about his seven-year-old nephew Adam who was undergoing cranial surgery to correct his symptoms of Treacher Collins syndrome. The documentary, Through Adam's Eyes, went on to win a 1978 Student Academy Award. Treacher Collins syndrome was featured in the 2005 Discovery Channel documentary, Unmasked: Treacher Collins Syndrome. As of 2008, it was still being shown on Discovery Health and the TLC channels. The disorder was featured on the show Nip/Tuck, in the episode "Blu Mondae". TLC's Born Without a Face features Juliana Wetmore, who was born with the most severe case in medical history of this syndrome and is missing 30%–40% of the bones in her face. In 2010, BBC Three documentary Love Me, Love My Face covered the case of a man, Jono Lancaster, with the condition. In 2011, BBC Three returned to Jono to cover his and his partner Laura's quest to start a family, in So What If My Baby Is Born Like Me?, which first aired as part of a BBC Three season of programmes on parenting. The first film was replayed on BBC One shortly ahead of the second film's initial BBC Three broadcast. Lancaster's third BBC Three film, Finding My Family on Facebook, which looked at adoption, aired in 2011. A young man with TCS was one of a number of people with various face/body-altering medical conditions or injuries to take part in Katie Piper's 2011 Channel 4 television series Katie: My Beautiful Friends. A boy, Nathaniel Newman, with TCS was one of the subjects on National Geographic Channel series Taboo, in the episode, "Ugly". Wonder, written by R. J. Palacio and published by Knopf in February 2012, is a children's novel that features a boy with the disorder. An episode of Grey's Anatomy, season 7 episode 12, features a character who has Treacher Collins syndrome.