Targeted syndrom under study
- Nicolaides-Baraitser syndrome (ORPHA:3051)
- Coffin-Siris syndrome (ORPHA:1465)
- Costello syndrome (ORPHA:3071)
- Cardiofaciocutaneous (CFC) syndrome (ORPHA:1340)
Abstract
In the last decades, the widespread use of next generation sequencing technologies have made it possible to identify genetic causes for many rare diseases, such as the above-mentioned syndromes.
However, there is very little information on the clinical phenotype of these rare syndromes in adulthood.
In this study we would like to collect clinical data of adult patients (≥ 18 years of age) with a genetically confirmed diagnosis of one of the above-mentioned syndromes. By delineating the adult phenotype of these syndromes, we hope to contribute to an improvement in the care and prevention options for these patients.
Coordinating clinicians/researchers
Ariane Schmetz – ariane.schmetz@hhu.de
Dagmar Wieczorek – dagmar.wieczorek@hhu.de
Institution
Institute of Human Genetics, University Hospital Düsseldorf, Germany
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No