The Role of Mutations on Gene TCOF1, in Treacher Collins Syndrome

Abstract

Jaw hypoplasia, lower eyelid disorders, down-slanted or anti-mongoloid eyelid cleft palate, and cleft palate in the zygomatic arch are the most common findings. Lower eyelid colboma is usually found on the outer third of the eyelid, and the lower eyelid cilia are usually either completely absent or incomplete on the inside of the eyelid. Gaps in the zygomatic arch cause sunken species. The lower jaw is extremely small and can be easily identified from the face, but sometimes radiography is needed for diagnosis. The ramus branch of the mandibular bone may be incomplete and the coronoid and condylar appendages may be flat or absent. Problems around the ears and cheeks and cleft palate are other symptoms of the syndrome. Ear disorders are another finding of the disease that affects all three parts of the ear (outer, middle and inner). Transient hearing loss occurs in 25 to 50% of patients, mainly due to hypoplasia of the external ear canal and middle ear bones.