3D craniofacial phenotypes in genetic diagnostics

In many monogenic disorders patients have typical facial features caused by a disturbed craniofacial development which is the subject of dysmorphology. These features may be obvious and clinically recognizable as a signature of a specific clinical and molecular diagnosis. However they may also be too subtle to be recognized by the clinician and may only be noticed after the molecular diagnosis is made through other symptoms, by genome wide genetic testing or even by a genome first approach. The knowledge on monogenic causes for disorders in all medical disciplines is rapidly expanding. Therefore dysmorphology is no longer limited to patients with intellectual disability and clinically recognizable dysmorphism but expands to a new exciting domain in need of new methods to objectively study the disruption of normal craniofacial development. In the genomic era, delineating and recognizing craniofacial phenotypes is increasingly important for both clinical assessment and variant interpretation in whole exome- or whole genome sequencing towards a molecular diagnosis. In the current Phd project 3D facial imaging and data driven approaches will be applied to study the relation of craniofacial phenotypes with medical disorders. The Phd project is embedded in a collaborative research program of the department of Human genetics, the Department of Electrical Engineering and the Oral and Maxillo-facial Surgery Imaging & Pathology (OMFS-IMPATH).