Facial deformities in TCS

Dutch patient with TCS

Dysgenesis of the hard and soft tissues of the first and second branchial arches.

In 2016 a systematic review and current evidence for the multidisciplinary treatment of Treacher Collins syndrome was provided (Plomp et al). Recommendations for treatment are made, and a proposed algorithm for treatment is presented.

Although some topics are well supported, others, especially ocular, nasal, speech, feeding, and swallowing problems, lack sufficient evidence.

Conclusions and recommendations were extracted consecutively for the following items: upper airway; ear, hearing, and speech; the eye, eyelashes, and lacrimal system; growth, feeding, and swallowing; the nose; psychosocial factors; and craniofacial reconstruction.

Craniofacial surgical reconstruction lacks a sufficient level of evidence to provide a sound basis for a full treatment protocol. More research is needed to compare outcomes of several surgical treatments, especially in orbito- zygomatic/maxillary regions.

In patients with TCS, functional deficits of the face are shown to be as important as the facial appearance (Plomp et al, 2013). Particularly nasal patency and hearing are frequently impaired and require routine screening and treatment from intake onwards. Furthermore, correction of ear deformities and midface hypoplasia should be offered and performed more frequently. Residual deformity and dissatisfaction remains a problem, especially in reconstructed eyelids.

Children with TCS may require multiple general anaesthetics, and it has been suggested that intubation becomes more difficult with increasing age.(Hoskin et al 2013)

All treatments should be tailored and balanced with the functional and psychological needs of the patient and his/her family (Chowchuen et al, 2011) In developing countries, funding from other resources, including the non-profit foundations, is needed in order to increase patients' accessibility, and improve the quality of the entire treatment program.

Last modified
20 June 2020

ICD: Q75.4

Rare Condition

Treacher Collins Syndrome

Treacher Collins Syndrome is a genetic disorder characterized by hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of...

General Medical Guideline
Specific Medical Guideline
Management and care about ear reconstruction. The ability to reconstruct a partial or total ear defect requires a thorough comprehension...