The Center for Cornelia de Lange Syndrome and Related Diagnoses is the culmination of years of dedicated work by a core team of clinicians and investigators at The Children’s Hospital of Philadelphia, coupled with the passion and vision of parents and families of children born with Cornelia de Lange syndrome (CdLS) and related diagnoses. This Center was established to develop a comprehensive approach to treating and understanding, on a clinical and molecular level, developmental diagnoses.

The Multispecialty Clinic of the Center works under the hypothesis that by understanding the clinical issues that children with specific developmental diagnoses face, and training experts in the relevant specialties to proactively manage these issues, the quality of life and cognitive outcomes of these children will be optimized. CHOP, with its tremendous clinical, research and administrative resources, has embraced the vision of the Center. The clinical activities cater to families from all over the world who may come for diagnostic purposes, to seek answers to questions that their local physicians are at a loss to answer, or for targeted medical and surgical care. All families return home with a plan of care for their children and a medical resource that is a phone call away.

Equal to the clinical activities of the Center are its research investigations. The identification of the underlying causative genes for these diagnoses and the pathways in which they work, a daunting task in and of itself, is just the beginning of the Center’s mission to translate this knowledge into novel diagnostic and management tools — and, eventually, into therapeutic tools.

The Center for Cornelia de Lange Syndrome and Related Diagnoses exists today due to a combined effort of the physicians at CHOP, the CdLS Foundation, collaborators from around the world, and families of those with CdLS that give of their time and insight to make the mission of this Center a reality.

By:  Dinah M Clark, MS, CGC and Ian D. Krantz, MD