Understanding, Diagnosing, and Using Genetic Testing for Treacher Collins Syndrome

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Treacher Collins Syndrome (TCS) is a rare genetic disorder that affects the development of facial bones and tissues. This comprehensive guide will help you understand the disorder, learn how it is diagnosed, and explore the benefits of genetic testing for individuals and families affected by TCS.

What is Treacher Collins Syndrome?

Treacher Collins Syndrome, also known as mandibulofacial dysostosis, is a congenital disorder that affects approximately 1 in 50,000 live births. The condition is characterized by underdeveloped facial bones, particularly the cheekbones, jaw, and chin. Individuals with TCS may also have abnormalities in their ears, eyes, and palate. The severity of the disorder varies widely, with some individuals experiencing mild symptoms while others require extensive medical and surgical intervention.

Diagnosing Treacher Collins Syndrome

Diagnosis of TCS is typically based on a combination of physical examination and medical imaging, such as X-rays or CT scans. In some cases, the characteristic facial features of TCS may be apparent at birth, while in others, the diagnosis may not be confirmed until later in childhood. In addition to evaluating the physical features of the individual, a thorough medical history and assessment of family history may also be helpful in establishing a diagnosis.

Genetic Testing for Treacher Collins Syndrome

Genetic testing can be a valuable tool in diagnosing and managing TCS. It involves analyzing a person’s DNA to identify mutations in the genes known to cause the disorder. In the case of TCS, mutations in the TCOF1, POLR1D, and POLR1C genes are responsible for the majority of cases.

Confirming a Diagnosis

Genetic testing can be used to confirm a suspected diagnosis of TCS, particularly in cases where the physical features are not as pronounced or when there is uncertainty about the diagnosis. Identifying the specific genetic mutation can help to clarify the diagnosis and guide appropriate medical management and treatment.

Carrier Testing

Carrier testing is a type of genetic testing that can be used to determine if an individual is a carrier of a gene mutation that causes TCS. This can be particularly useful for family members of individuals with the disorder, as it can help them understand their risk of having a child with TCS. If both parents are carriers of a TCS-causing mutation, there is a 25% chance that their child will inherit the condition.

Prenatal Testing

Prenatal testing is another application of genetic testing that can be used to detect TCS in a developing fetus. This can be done through chorionic villus sampling (CVS) or amniocentesis, both of which involve collecting a small sample of the developing baby’s cells for analysis. Prenatal testing can provide valuable information for parents who are at risk of having a child with TCS, allowing them to make informed decisions about their pregnancy and prepare for the potential medical needs of their child.

Genetic Counseling

Genetic counseling is an important component of the genetic testing process, particularly for individuals and families affected by TCS. A genetic counselor can help to interpret the results of genetic testing, provide information about the disorder, and discuss the potential implications for the individual and their family. This can be particularly helpful in addressing concerns about recurrence risks, reproductive options, and the potential for future generations to be affected by the disorder.

Conclusion

Treacher Collins Syndrome is a complex genetic disorder that affects the development of facial bones and tissues. Understanding the disorder, its diagnosis, and the benefits of genetic testing can help individuals and families affected by TCS make informed decisions about their health and future. Genetic testing, in conjunction with medical evaluation and genetic counseling, can provide valuable information for those living with TCS and help guide appropriate medical management and treatment.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)