Project
Genotype-phenotype studies of craniofacial disorders
The aim in this project is threefold: first, to identify new genetic causes of (rare) craniofacial developmental anomalies for which no genetic or genomic etiology was yet found; second, to set up a diagnostic exome sequencing panel for craniofacial disorders, and third, to design a standard 3D phenotyping protocol for future use in research as well as in the clinical setting in craniofacial patients. The focus lies on three types of disorders, comprising: 1) syndromic and nonsyndromic orofacial clefting,
2) cranioynostosis and/or 3) abnormalities in tooth development. So far, the genetic cause of many craniofacial disorders is not yet identified. We will use next generation sequencing (NGS) techniques to try to identify unknown causes of rare craniofacial disorders and then combine/relate the genetic findings with phenotypic data. A first publication appeared in Genetics in Medicine (Ockeloen et al, GIM,2016) Accurate phenotyping remains an important issue also for the process of genetic diagnosis in the future, like for recognizing patterns of specific genetic conditions and syndromes. We recently – for the first time - published a 3D stereophotogrammetric analysis in patients with KBG syndrome (Ockeloen et al, EJHG,2015).