2004 - The first CdLS gene is discovered.

Dr. Ian Krantz of the Children’s Hospital of Philadelphia (CHOP) and his research team identify the genetic mutation that causes CdLS-NIPBL on Chromosome 5. 

The breakthrough paves the way for genetic testing to confirm a diagnosis. It raised awareness of the syndrome among physicians and brought a biological understanding that could lead to new therapies and interventions for individuals with CdLS. 

There is also a monthly clinic at the Childrens Hospital of Philadelphia at the Center for Cornelia de Lange Syndrome and Related Diagnoses. The goal is to improve the lives of children with this rare condition and their families by providing a medical home. The specialists work together with primary care providers and families to focus on optimizing cognitive development and quality of life.