Treacher Collins syndrome or otherwise known as Treacher Collins-Franceschetti syndrome or sometimes also as mandibulofacial dysostosis. This disease is a rare congenital disorder that occurs in 1 of every 50,000 births. It is characterized mainly by distinct craniofacial deformities, a common example of which is absent cheekbones. Aside from that other features include micrognathia (small lower jaw), downward slanting eyes, underdeveloped zygoma, conductive hearing loss, malformed or absent ears and a drooping portion of the lateral lower eyelids. This disorder is most commonly caused by mutations in several genes.
The five-year-old Julianna Wetmore is one of the most severe cases of the extremes of Treacher Collins syndrome. Growing Up without a Face is a documentary film that follows Julianna’s story from the moment she was still in her mother’s womb to growing up and becoming the beautiful girl that she is. Prepare to be moved and inspired by her story.