Treacher Collins syndrome, also known as mandibulofacial dysplasia syndrome, is a congenital craniofacial complex malformation that primarily involves the midface and lower face, with both bony structural abnormalities and typical soft-tissue malformations. The incidence in newborns is about 1/50000, and it is autosomal dominantly inherited. I. Clinical manifestations The syndrome bone structure abnormality is mainly the developmental abnormality of zygomatic bone structure, involving temporal bone, maxilla and mandible, which is bilateral and unilateral is absent. The zygomatic bone is hypoplastic and even absent in severe cases; the zygomatic arch can be completely absent or only have the remaining bony protuberance of the zygomatic process of the temporal bone; the zygomatic process of the maxilla on the lateral side of the infraorbital neural foramen is also underdeveloped, and the lower edge of the outer orbit and the outer lateral wall are underdeveloped or absent, and the whole orbital skeleton is an outwardly and downwardly tilted oval shape; the maxilla is narrow and excessively anteriorly protruding, and the palatine arches are high and narrow; the mandible is hypoplastic and has a vertical mandibular plane with a class III misalignment accompanied by an anterior tooth The chin is long and retracted with a bird’s beak deformity. Soft tissue malformations include: downward displacement of the outer canthus in an antimongolian eye deformity, loss of the middle and outer 1/3 of the lower lid and the inner 2/3 of the lower eyelid margin lashes, poor attachment of the outer canthus, shortened eyelid fissure, and cuts in the upper eyelid margins and eyebrows; malformation of the outer ear, external auditory canal atresia, hypoplasia of the middle ear, conductive hearing impairment, anterior sinus tracts of the ears, and lingual extension of the anterior ear hairline towards the cheek; proptosis and broadening of the nasal bone, and flattened frontal-nasal angle; cleft-lip deformity, and macroglossia, etc. There is no precise quantitative classification standard for zygomatico-orbital hypoplasia. According to the clinical observation of three-dimensional CT and shape, zygomatico-orbital bone is mildly hypoplastic if it is more than 2/3 of normal, moderate if it is 1/3~2/3, and severe if it is less than 1/3 of normal or missing. Clinical manifestations and X-ray examination have good diagnostic value for Treacher Collins syndrome. CT and three-dimensional reconstruction can more realistically show the anatomical changes of craniofacial bone tissues in this syndrome, which is more conducive to diagnosis. Ultrasound is useful in the intrauterine diagnosis of the fetus, which is characterized by excessive amniotic fluid, absence of swallowing activity, and poor bilateral development of the parietal diameter and head circumference. In families with Treacher Collins syndrome, fetoscopy can be used for prenatal intrauterine diagnosis. Treatment: The treatment of Treacher Collins syndrome consists of a combination of skeletal scaffold reconstruction and soft tissue repair. The principle of treatment is to reconstruct the skeletal scaffold first, and then repair the soft tissues. in cases of severe deformity of Treacher Collins syndrome, the hypoplasia of the mandible and small mandibular deformity can lead to the reduction of the volume of the intrinsic oropharyngeal cavity of the child in the neonatal period and the fall of the tongue, which can cause obstructive sleep apnea, and in order to save the life of the child, tracheotomy or placement of nasopharyngeal airway should be carried out in the early stage. or placement of a nasopharyngeal airway, and treatment can be initiated at less than 1 year of age under conditions of adequate preparation. At present, the more consistent point of view is that the external otoplasty is carried out after the age of 6 years, jaw surgery can be carried out at the age of 6 to 10 years, can also be carried out after the completion of jaw development, generally the final plastic surgery is completed at the age of 16 to 18 years. 2, surgical methods (1) bone tissue reconstruction zygomatico-orbital reconstruction is the basis and the most important part of the treatment of Treacher Collins syndrome. The zygomatico-orbital reconstruction is the basic and most important part of the treatment of Treacher Collins syndrome. Depending on the filling material, it can be divided into autologous tissue filling and allogeneic material filling. Autogenous bone is the most commonly used repair material, which can be rib, iliac bone, skull, etc., and it is stable for life once it becomes viable, but there is a certain amount of resorption when the implanted bone volume is larger, and the damage at the bone donor is larger due to the large amount of bone needed; Medpor is the ideal artificial material, with good histocompatibility, and it can avoid the damage in the bone harvesting and donor area. Through the traction osteogenesis technique to increase the volume of zygomatic bone, but the increase in bone volume is limited, it is more suitable for the treatment of patients with mild to moderate deformity, especially in childhood, and if the amount of bone volume is insufficient after the treatment, it can be supplemented with other methods of surgical treatment again after puberty. (2) Repair of mandibular shortening deformity For patients with mild deformity, the main purpose of treatment is to improve the appearance, and chin augmentation, chin implantation, or horizontal osteotomy of the chin can be used to correct the deformity; for patients with severe deformity, in addition to the consideration of the appearance of the restoration of the physiological function at the same time reconstruction of the surgical methods, including the mandible sagittal splitting osteotomy and distraction osteotomy to extend the mandible. (3) Soft tissue reconstruction Lower eyelid defects can be repaired by transferring the upper eyelid orbicularis oculi flap with its tip, and at the same time, outer canthoplasty can be performed to restore the outer canthus to the normal position of the eye socket. In addition, the external ear deformity and nasal deformity of different patients should be treated accordingly.