About the Center for Cornelia de Lange Syndrome and Related Diagnoses

The Center for Cornelia de Lange Syndrome and Related Diagnoses provides multidisciplinary care to children and adults with Cornelia de Lange syndrome (CdLS) and other conditions affecting multiple systems of the body. Our goal is to improve the lives of children with these rare conditions and their families, and provide a medical home for our patients.

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. Families from all over the world come to us for answers and for targeted medical and surgical care.

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.

Conditions we treat

We treat patients with a wide variety of diagnoses, including:

  • Cornelia de Lange syndrome (CdLS) — a genetic condition present at birth that is characterized by numerous physical, intellectual and behavioral differences. Children with CdLS usually have low birth weight, are smaller in size and height and have a smaller head circumference (microcephaly). There is a wide clinical spectrum associated with CdLS ranging from mild to severely affected.
  • Pallister-Killian Syndrome (PKS) — a lifelong developmental diagnosis characterized by characteristic facial features, weak muscle tone, developmental delays, intellectual impairment, pigmentary differences, seizures, as well as other systemic abnormalities.
  • Coffin-Siris Syndrome (CSS) — a congenital diagnosis affecting multiple body systems that is typically characterized by distinctive facial features, underdeveloped nail of the fifth finger, developmental and cognitive delays, as well as a variety of other characteristics.
  • Chromosomal deletion/duplication syndromes — numerous chromosomal deletion and duplication syndromes can result in variable clinical manifestations and require management by a multidisciplinary team.

Evaluation and care planning

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.

We will request 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.

Support for patients and families

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.