What is treacher collins syndrome and how does it affect someone?”
It prevents the skull, cheek and jawbones from developing properly, causing facial defects and hearing loss. About one child in every 50,000 is affected. Problems range in severity from mild to very severe. In most cases, the child’s intelligence is normal. Treacher Collins syndrome is either inherited or caused by a genetic mutation at the time of conception. There is no cure, but skull and face (craniofacial) surgery can improve speech and create a more normal appearance. Treacher Collins syndrome is also known as mandibulofacial dysostosis or Franceschetti’s syndrome. Symptoms Symptoms and signs range from barely noticeable to severe and disabling. Typically, the characteristics of a person with Treacher Collins syndrome may include: * Cleft palate * Small jawbone (micrognathia) * Disproportionately large mouth (macrostomia) * Small or absent cheekbones * Large and pointed nose * Droopy misshaped eyes with notched lower lids * Absent lower eyelashes * Absent floor of the eye sockets
Treacher Collins syndrome is a rare genetic disorder characterized by craniofacial deformities.[1]:577 Treacher Collins syndrome is found in 1 in 10,000 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.
