This website provides information on patients with mutations in the TCOF1 gene, causing Treacher Collins syndrome, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the gene TCOF1 in about 60% of patients is a rare genetic disorder characterized by facial anomalies and ear defects called Treacher Collins syndrome (OMIM #154500).

Treacher Collins syndrome caused by mutations in the TCOF1 gene is inherited in an autosomal dominant manner. Penetrance in mutation carriers is reduced.
Variants in other genes (POLR1B, POLR1C, POLR1D) cause Treacher Collins syndrome as well.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TCOF1 gene.

Ariane Schmetz, MD, Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany, ariane.schmetz@uni-duesseldorf.de

Dagmar Wieczorek, MD, PhD, Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany, dagmar.wieczorek@uni-duesseldorf.de