| Treacher-Collins-syndroom (aandoening) |
| Treacher-Collins-syndroom |
| mandibulofaciale dysostose
mandibulofaciale dysostosis
syndroom van Treacher-Collins
|
| syndroom van Treacher-Collins |
| Aangeboren aandoening met ernstige afwijkingen in het gezicht en soms gehoorstoornissen. |
| Treacher Collins syndrome |
| Franceschetti Klein syndrome
Mandibulofacial dysostosis
|
| A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner. |
