Center for Cornelia de Lange Syndrome and Related Diagnoses
Children with Cornelia de Lange syndrome and related diagnoses require coordinated care from a team of specialists who understand how different body systems are affected. The Center for Cornelia de Lange Syndrome and Related Diagnoses at Children's Hospital of Philadelphia (CHOP) is committed to improving the lives of these children by providing them with a medical home.
Here, you’ll find supportive care from specialists who collaborate with your family and your child’s pediatrician. We offer a depth of clinical services, targeted medical and surgical care, and research studies that are unmatched in the region.
We are committed to identifying the causes of these conditions and helping all children experience the simple joys of learning, playing and everyday life.
How we serve you
At CHOP, we provide your child with a comprehensive evaluation so we can address their medical issues. We provide you with a written care plan to share with your child’s pediatrician to ensure your child’s care is consistent and appropriate.
Conditions we treat
Our program treats children and adults with Cornelia de Lange syndrome and related diagnoses including Pallister-Killian syndrome, Coffin-Siris syndrome and chromosomal deletion/duplication syndromes.
Meet your team
Your child's care team is composed of internationally-renowned experts dedicated to the care and treatment of children with genetic conditions affecting multiple body systems.
Our research
CHOP has a large – and growing – database of genetic information from patients with Cornelia de Lange syndrome and related diagnoses. This information helps us better understand these disorders and how they affect individuals.
CdLS resources
We have compiled resources to help you feel more confident in the care you are providing your child with Cornelia de Lange syndrome or related diagnoses.
Patient stories
Your child’s appointment
Your child will be evaluated by a core team including a geneticist, gastroenterologist, developmental pediatrician, physical therapist and other specialists, as needed. Our team will develop a comprehensive care plan for your child and provide you with a Care Binder, a special tool for families who have children with complex, multi-system disorders.
Your donation changes lives
Donations fuel breakthrough discoveries, innovative care and pioneering treatments at the Center for Cornelia de Lange Syndrome and Related Diagnoses.
