Treacher Collins syndrome 1

Treacher Collins syndrome 1 is a craniofacial disorder characterized by distinctive facial features that arise due to abnormalities in bone and soft tissue development. It is caused by mutations in the TCOF1 gene, which plays an essential role in the formation of facial structures during embryonic development. The condition typically presents at birth with noticeable facial differences and hearing difficulties, and while exact prevalence data are not available, it is recognized as an uncommon congenital condition. Affected individuals benefit from early evaluation and supportive management tailored to their specific needs.

Individuals with Treacher Collins syndrome 1 commonly exhibit characteristic facial features that include micrognathia, absent eyelashes, abnormal pinna morphology, lower eyelid coloboma, and downslanted palpebral fissures—all of which are reported to be present in all affected individuals. In addition, many experience conductive hearing impairment and malar flattening, while a subset may have features such as upper eyelid coloboma, microtia, preauricular hair displacement, atresia of the external auditory canal, cleft palate, various forms of craniosynostosis, or even hydrocephalus. Not all individuals experience all features, and severity varies considerably, which means that while the core features are highly consistent, some aspects of the condition may be milder or absent in certain cases.

Treacher Collins syndrome 1 is caused by pathogenic variants in the TCOF1 gene. The TCOF1 gene is essential for producing treacle, a protein involved in the development of facial structures. The condition follows an autosomal dominant inheritance pattern, meaning that an affected individual has a 50% chance of passing the mutation on to their offspring. That even within families, the severity and specific manifestations can vary considerably, a demonstration of variable expressivity.

Currently, management of Treacher Collins syndrome 1 focuses on supportive care and symptom management, as no treatments are specifically approved for this condition. Treatment is tailored to the individual and usually involves a multidisciplinary team that may include surgeons, audiologists, speech therapists, and other specialists. Regular surveillance is an essential part of long-term care, helping to identify potential complications early, such as hearing impairments or airway issues. Patients should discuss treatment options with their healthcare team, and genetic counseling is recommended to assist with family planning and understanding the condition.

The outlook for individuals with Treacher Collins syndrome 1 varies considerably, with outcomes largely dependent on the severity of the craniofacial differences and the effectiveness of supportive interventions. With current standards of care, many affected individuals experience stabilization of symptoms over time and go on to live into adulthood. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it helpful to connect with specialists familiar with this condition for ongoing support and management. It is important to recognize that while the core facial features are persistent, the impact on overall health and quality of life can range from mild to more significant based on individual circumstances.