Center for Cornelia de Lange Syndrome and Related Diagnoses

At the Center for Cornelia de Lange Syndrome and Related Diagnoses, our goal is to improve the lives of children with these rare conditions and their families. We provide multidisciplinary care to children and adults with Cornelia de Lange syndrome (CdLS) and related diagnoses.

The Center for Cornelia de Lange Syndrome is composed of an internationally known team committed to children with conditions affecting multiple systems of the body, including structural birth defects, growth and cognitive delays. Our team has a high level of expertise specific to these rare conditions.

To provide the best medical care, we work together — across many specialties and with primary care providers and families — so that every patient has a plan for care that optimizes cognitive development and quality of life.

Clinical care

The Center for Cornelia de Lange Syndrome and Related Diagnoses provides comprehensive evaluations of children and adults to address medical issues that are common to CdLS and related conditions. In most cases, you and your child will visit CHOP’s Main Campus for an evaluation by our internationally known team of specialists. If a visit to Philadelphia is not possible, we offer a “virtual consultation.”

Whether we evaluate your child in person or “virtually,” we will request the same information about your child, including:

  • Signs and symptoms
  • Medical history of the child
  • Family background
  • Results of any diagnostic tests completed

In many cases, we may request additional diagnostic or genetic testing to better understand your child’s condition and how CdLS or a related disorder is affecting your child’s life.

Once we have all of the information, we will evaluate it, offer our diagnostic impression, and answer any questions you may have.

After your child’s evaluation, we will

  • Provide a written plan to share with your child’s regular pediatrician and specialists
  • Work with you and your child’s doctors to make sure care remains consistent and appropriate
  • Schedule additional visits if necessary


The Center for Cornelia de Lange Syndrome and Related Diagnoses is also an international leader in research. We are committed to identifying the causes of these conditions and treatments to alleviate their effects. To learn, to play, to enjoy life — all children deserve to experience these simple joys, and this motivates our research.

Because of the Center’s depth and breadth of clinical services and research studies, we offer unique benefits for families of children with CdLS. We can provide improved management and therapy for affected individuals in a setting in which they can receive coordinated care and comprehensive services.

For the children

Children with complex multisystem development diagnoses can bring much joy and happiness into our lives, yet they face many challenges. Our patients may look different. They often have a hard time communicating. They experience medical difficulties and more pain. However, with the support of a loving family and a knowledgeable healthcare team, they are capable of great progress.

The team at the Center for Cornelia de Lange Syndrome and Related Diagnoses feels privileged to serve these beautiful children, and adults, and their families. We are committed to their well-being, now and for the future.