Treacher Collins is a rare, inherited, congenital craniofacial condition affecting the bones, jaws, skin and muscles of the face. A syndrome is a disease or disorder that has more than one identifying feature or symptom.
Children with Treacher Collins syndrome have many facial features in common, although there is a wide variation in the severity of the condition.
Because this syndrome involves a number of different areas of the face, the treatment requires the skills and experience of a craniofacial team with a coordinated treatment plan. The other names for Treacher Collins syndrome are mandibulofacial dysostosis and Franceschetti-Zwalen-Klein syndrome.
Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis, is a genetic disorder affecting craniofacial development that follows an autosomal-dominant inheritance pattern.
Treacher Collins syndrome is considered rare. It manifests in approximately 1 out of every 25,000 to 50,000 live births.
Most cases of Treacher Collins syndrome result from mutations in the TCOF1 gene, also known as Treacher Collins-Franceschetti syndrome 1, which is located on chromosome 5. This gene is responsible for producing the treacle protein, crucial for the transcription of ribosomal RNA (rRNA) and the formation of ribosomes. Treacle is most actively produced in the neural crest cells within the branchial arches.
Mutations in the TCOF1 gene disrupt the normal development of the first and second branchial arches bilaterally, leading to improper formation of craniofacial structures including cartilage, bone, and connective tissue. This is primarily due to the impaired function of neural crest cells, causing significant craniofacial anomalies. Treacher Collins syndrome is characterized, according to Tessier’s classification, by clefts spanning positions 6 through 8.
Individuals with Treacher Collins syndrome typically exhibit several distinctive features, including:
Treatment for Treacher Collins syndrome can involve surgical interventions to address breathing, feeding, and structural concerns from the first days of life. These may include glossopexy, mandibular distraction osteogenesis, tracheostomy, and gastrostomy. Cleft lip and palate are typically surgically corrected at 3 and 10 months of age, respectively.
Around the age of 3.5 years, efforts to correct microtia and conductive hearing loss begin, with a preference for reconstructing the ear using a 3D porous polyethylene implant.
Zygomatic contour may be enhanced through fat grafting or, in severe cases, with bone grafts from the skull or iliac crest. Lower eyelid colobomas are repaired using a detailed reconstruction approach, and jaw correction is considered from ages 13 to 16, depending on the development and condition of the temporomandibular joint (TMJ).
As patients approach skeletal maturity around age 16, facial soft tissue contour can be further refined with additional fat grafting. Such cosmetic and functional improvements significantly benefit the patient’s psychological and social wellbeing. Research involving 20 TCS patients showed notable enhancements in appearance, self-esteem, and functional ability following craniofacial reconstruction, with the most significant improvements observed one year post-operation.
The prognosis for individuals with Treacher Collins Syndrome varies, depending on the severity of the anomalies and the success of interventions. Many lead full, active lives, though ongoing medical care is often necessary. Long-term management focuses on monitoring growth and development, addressing new concerns, and providing support for educational and social challenges.
Beyond the physical and medical challenges, Treacher Collins Syndrome can have profound psychosocial implications. Individuals may face social stigma, bullying, and emotional distress related to their appearance and disabilities. Building a supportive community, including family, healthcare providers, educators, and peer support groups, is essential for fostering self-esteem, independence, and resilience.
Treacher Collins Syndrome is a complex condition requiring a comprehensive and compassionate approach to care. Advances in medical and surgical techniques have significantly improved outcomes, allowing individuals with Treacher Collins Syndrome to lead fulfilling lives. As with many rare conditions, raising awareness and understanding is key to improving the lives of those with Treacher Collins Syndrome and their families, highlighting the importance of community and medical support in navigating the challenges it presents.
