Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin.

[6] Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices.

[5] The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist, who described its essential traits in 1900.

Some individuals are so mildly affected that they remain undiagnosed, while others have moderate to severe facial involvement and life-threatening airway compromise.

The small mandible can result in a poor occlusion of the teeth or in more severe cases, trouble breathing or swallowing.

[12][13][15][16] Although an abnormally shaped skull is not distinctive for Treacher Collins syndrome, brachycephaly with bitemporal narrowing is sometimes observed.

[12] Dental anomalies are seen in 60% of affected people, including tooth agenesis (33%), discoloration (enamel opacities) (20%), malplacement of the maxillary first molars (13%), and wide spacing of the teeth.

[12] Less common features of TCS may add to an affected person's breathing problems, including sleep apnea.

Choanal atresia or stenosis is a narrowing or absence of the choanae, the internal opening of the nasal passages, which may also be observed.

[11][12][16] Although facial deformity is often associated with developmental delay and intellectual disability, more than 95% of people affected with TCS have normal intelligence.

The TCOF1, POLR1C, and POLR1D genes code for proteins which play important roles in the early development of bones and other tissues of the face.

Mutations in these genes reduce the production of rRNA, which may trigger the self-destruction (apoptosis) of certain cells involved in the development of facial bones and tissues.

It codes for a relatively simple nucleolar protein called treacle, that is thought to be involved in ribosome assembly.

This acronym describes five distinct dysmorphic manifestations, namely orbital asymmetry, mandibular hypoplasia, auricular deformity, nerve development, and soft-tissue disease.

[31] Orbital symmetry Mandible Ear Facial nerve Soft tissue A few techniques are used to confirm the diagnosis in TCS.

Particularly, OPG facilitates an accurate postoperative follow-up and monitoring of bone growth under a mono- or double-distractor treatment.

The facial appearance resembles that of Treacher Collins syndrome, but additional limb abnormalities occur in those persons.

Another disease which belongs to this spectrum is Goldenhar syndrome, which includes vertebral abnormalities, epibulbar dermoids and facial deformities.

[35] An overview of the present guidelines: Hearing loss in Treacher Collins syndrome is caused by deformed structures in the outer and middle ear.

[41] Attempts to surgically reconstruct the external auditory canal and improve hearing in children with TCS have not yielded positive results.

[38] The disorder can be associated with a number of psychological symptoms, including anxiety, depression, social phobia, and distress about body image.

[12] The syndrome is named after Edward Treacher Collins (1862–1932), the English surgeon and ophthalmologist who described its essential traits in 1900.

[46] In July 1977, a New York Times article describing new plastic surgery techniques which could partially correct the appearance of those with Treacher Collins syndrome was widely circulated resulting in raised awareness of the disease.

[47] Prior to beginning his comedy career, Bob Saget made a documentary short called "Through Adam's Eyes" documenting his young nephew's experiences undergoing facial reconstructive surgery due to Treacher Collins; the film won a student Academy Award.

[56] A 2017 film adaptation of Wonder, starring Julia Roberts, Owen Wilson and Jacob Tremblay, was released in November 2017.