The Center for Cornelia de Lange Syndrome and Related Diagnoses at The Children’s Hospital of Philadelphia exists to provide clinical care and to improve the lives of children and adults with Cornelia de Lange syndrome (CdLS) and related diagnoses, and their families. Our center offers the opportunity to translate clinical and benchtop research towards the development of improved management and therapeutics for affected individuals and to provide a setting in which they can receive coordinated care and comprehensive services.
The Center for Cornelia de Lange Syndrome and Related Diagnoses 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.
The Center for Cornelia de Lange Syndrome and Related Diagnoses is also an international leader in research, 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.
While children with complex multisystem development diagnoses bring much joy and happiness into their families’ lives — and our lives — 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.