Treacher Collins Syndrome

Treacher Collins Syndrome (Mandibulofacial dysostosis) is an autosomal dominant congenital disorder with craniofacial deformities, such as absent cheekbones.  Other features include downward slanting eyes, micrognathia (small lower jaw), underdeveloped zygoma, drooping part of lateral lower eyelids, malformed or absent ears, and conductive hearing loss.

Occasionally some cases are extremely severe.  TLC featured a case of a girl named Juliana Wetmore, who was missing 30-40% of the bones in her face.

Other similar posts
This entry was posted in Bones, Congenital anomaly and tagged , , .