Interdisciplinary study of molecular genetic analysis of patients with craniofacial dysplasias.

The elucidation of molecular genetic causes of syndromal craniofacial dysplasias helps to reveal basic (patho-) mechanisms of chondrocyte and osteoblast differentiation and morphogenesis of the skull. Genetic analysis allows reclassification of these diseases with improved prognosis for planning surgical interventions, lifelong therapy concepts and prenatal diagnosis. In the long term, a large number of familial syndromes will provide the basis for genetic elucidation of previously unclassified diseases, i.e. linkage analyses and candidate searches. The planned study has the following aims: 1. the cross-regional clinical characterization of a heterogeneous collective of patients with syndromic and non-syndromic craniofacial dysplasias; 2. the molecular genetic investigation of single genes known to be causative; 3. the complete exclusion of mutations in the entire FGF receptor (FGFR)-2 gene in patients with craniosynostoses without mutations in the hot spots; 4. the extension of the investigation to further candidate genes.