Targeted syndrome under study:
Cornelia de Lange syndrome (OMIM #122470 300882 300590 610759 614701 617126 or ORPHA code: 199)
Abstract
The project aims to systematically collect detailed phenotypic data from adult patients with Cornelia de Lange Syndrome (CdLS), a rare genetic disorder characterized by developmental, cognitive, and physical features. While CdLS is well-studied in children, there is limited knowledge about its progression and manifestations in adulthood. This initiative involves comprehensive assessments of physical, cognitive, and behavioral traits, alongside medical histories, to understand how the syndrome evolves over time. By capturing this data, the project seeks to identify age-related challenges, inform tailored medical care, and support long-term management strategies for adults with CdLS. The study also aims to bridge gaps in clinical guidelines, enabling improved quality of life and better outcomes for this underserved population.
Coordinating clinicians
Dr Karolina Śledzińska – ksledzinska@gumed.edu.pl
Prof. Jolanta Wierzba – kwierz@gumed.edu.pl
Institution
Medical University of Gdansk, University Clinical Centre, Gdansk, Poland
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No