CdLS Foundation
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  • January 2026

  • Thu 8

    CdLS Foundation January Virtual Support Group for Parents

    January 8 @ 7:00 pm - 8:15 pm

    We know how much you carry every day — appointments, school meetings, medications, behaviors, and the emotional weight of loving someone with CdLS. It’s a lot, and you don’t have […]

  • Wed 21

    In the Room: Navigating the Space Between Adjustment and Acceptance in the Context of a Genetic Diagnosis

    January 21 @ 8:00 pm - 9:00 pm

    Hosted by Courageous Parent Network (CPN) Receiving a genetic diagnosis (or lacking a diagnosis) for a child can be a profoundly life-altering experience for families. In this session, Mary-Frances will […]

  • February 2026

  • Thu 5

    CdLS Foundation February Virtual Support Group for Parents

    February 5 @ 7:00 pm - 8:15 pm

    The next CdLS Foundation Parent Support Group is scheduled for February 5, and we’d love to welcome you. 📅 February 5, 2026 🕖 7:00–8:15 p.m. ET 📍 Zoom (link provided […]

  • Tue 10

    In the Room: Unlocking Answers: What Every Parent Should Know About Genetic Testing

    February 10 @ 8:00 pm - 9:00 pm

    Hosted by Courageous Parent Network (CPN) Genetic testing can play a powerful role in helping families find answers about their child’s health. In this session, we’ll walk you through the […]

  • Thu 12

    International CdLS Remembrance Day

    February 12

    Losing a loved one with CdLS at any age is life-altering. Parents, siblings, grandparents, relatives, and friends experience profound grief, often accompanied by questions that have no easy answers. During […]

  • Thu 12

    2026 International CdLS Remembrance Day: Continuing Your Child’s Legacy

    February 12 @ 12:00 pm - 1:00 pm

    International and United States Gathering (English Speaking) – Continuing Your Child’s Legacy After the main Remembrance Day event, international and United States families are warmly invited to stay with us […]

  • Thu 12

    Día Internacional de Conmemoración del Síndrome de Cornelia de Lange

    February 12 @ 12:00 pm - 1:00 pm

    El 12 de febrero de 2026, nuestra comunidad CdLS de todo el mundo se reunirá para un encuentro muy especial: el Día Internacional de Recuerdo CdLS. Este será un espacio […]

  • Thu 12

    Continuing the Legacy of Your Loved One

    February 12 @ 6:00 pm - 7:00 pm

    United States families are warmly invited to join us for an English-language gathering focused on connection, reflection, and emotional support at 6:00 p.m. (Eastern Time, U.S.). Register here for the […]

  • Thu 26

    Ask the Special Education Boss®: Live IEP Q&A with Karen Mayer Cunningham Webinar

    February 26 @ 7:30 pm - 8:30 pm

    Hosted by Parenting Special Needs Magazine Ask the Special Education Boss®: Live IEP Q&A with Karen Mayer Cunningham LIVE ONLINE EVENT Join Parenting Special Needs Magazine for a free live […]

  • Sat 28

    Rare Disease Day

    February 28

    RARE Is Not Rare One out of every 10 Americans is living with a rare disease. Worldwide, there are more than 300 million people with rare diseases. Too often, these […]

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Children’s Hospital of Philadelphia

For families navigating a new or complex diagnosis of Cornelia de Lange Syndrome, the Children’s Hospital of Philadelphia (CHOP) is one of the places where trusted guidance and rigorous science come together. The Center for Cornelia de Lange Syndrome and Related Diagnoses at CHOP provides specialized multidisciplinary care, ensuring that clinical support and scientific understanding inform one another at every step.

The work done here has fundamentally changed what is known about CdLS. Research led by the CHOP team resulted in the identification of the first genes associated with the syndrome, NIPBL, SMC1A, and SMC3, discoveries that made molecular diagnosis possible and opened pathways for research that continues to shape care worldwide.

This is what it means when lived experience and science are not separate: the families who come through this clinic are connected to a body of knowledge being actively built on their behalf, and the researchers here are grounded in the realities those families navigate every day.

Greater Baltimore Medical Center

When families arrive at a CdLS diagnosis, one of the most important things they need is someone who has been here before and who knows the syndrome, understands what families face, and can help them find their footing. The CdLS clinic at Greater Baltimore Medical Center (GBMC) has been that place for families for more than two decades.

Dr. Antonie Kline established the clinic in 2000, recognizing that consistent, specialized care was essential for individuals with CdLS at every stage of life. What has emerged since is not just a clinical practice, but a body of knowledge, grounded in long-term relationships with patients and families, that continues to inform how CdLS is understood and managed.

Today, GBMC’s most promising research focuses on aging in CdLS, which is an area that reflects the Foundation’s commitment to lifespan-oriented care. For the families who come here, that means being part of something that not only responds to their needs today, but also builds understanding that will benefit those who follow.

Shriners Children’s Salt Lake City

No family navigating a CdLS diagnosis should have to navigate it alone or travel great distances to reach care from someone who truly understands the syndrome. The designation of Shriners Children’s Salt Lake City as a Center of Excellence is a direct expression of that commitment.

This center brings specialized, multidisciplinary CdLS care to families across the Mountain West, reducing the distance between a family’s daily reality and the clinical expertise they need. The Shriners team brings a strong, growing knowledge of CdLS, a commitment to collaboration, and a shared belief that the best care is built through ongoing connections with families, researchers, and clinicians across the broader network.

This is how the system grows: not just by deepening expertise at established centers, but by extending the reach of that expertise so that more families can be met where they are, in the moment they need it most.

Cohen Children’s Medical Center

Cohen Children’s Medical Center at Northwell Health is proud to be designated a CdLS Foundation Center of Excellence — one of a select group of institutions recognized for delivering the highest standard of clinical care and research for individuals with Cornelia de Lange Syndrome (CdLS) and their families.

Expert, Compassionate Care Close to Home

Our dedicated CdLS Multidisciplinary Clinic brings together specialists across Genetics, Gastroenterology, Child Development, Endocrinology, Neurology, and Physical Therapy — all under one roof. Families benefit from coordinated, comprehensive care supported by dedicated genetic counselors and administrative staff committed to a seamless experience.

World-Renowned Leadership

Our program is led by Dr. Ian Krantz, M.D., an internationally recognized authority on CdLS with over 20 years of experience building and leading the CdLS Center at Children’s Hospital of Philadelphia (CHOP). Dr. Krantz brings unparalleled clinical expertise and a deep commitment to this community to Northwell Health.

Advancing CdLS Research

Through the Feinstein Institutes for Medical Research, our team conducts original research focused on biomarker development and new therapeutic strategies for CdLS. We contribute to national registries, collaborative datasets, and biobanking efforts — including data and samples from approximately 2,000 individuals with CdLS gathered over decades of research. Our research is driven by one goal: better outcomes and quality of life for every individual with CdLS.

We welcome collaboration with clinicians and researchers. Contact us to discuss referrals, joint research initiatives, or data sharing opportunities.

Partnering with Families

We believe families are essential partners in care. We work closely with the CdLS Foundation’s Family Services team and are committed to providing resources, education, and support every step of the way.

University of California, Irvine

Understanding what causes CdLS at a molecular level is essential to everything that follows, from diagnosis to care to the possibility of treatment. The research team at UC Irvine has been central to building that understanding, and their work has changed what is possible for families affected by the syndrome.

In collaboration with researchers at CHOP, the team helped identify NIPBL, which is the gene responsible for the majority of CdLS cases. That discovery was not just a scientific milestone. It enabled molecular diagnosis, opened new research pathways, and set in motion a body of work that continues to inform how CdLS is understood across the scientific community.

The team has since developed mouse and zebrafish models of CdLS to explore how the syndrome affects development, including cardiovascular, structural, and neurological changes, and to test approaches that may one day help prevent or treat those effects. This is the kind of foundational science that connects lived experience to future possibility: work shaped by the realities families face and by the ways families are helping carry the work forward.

Stowers Institute for Medical Research

Hope in the context of CdLS is not passive. It is the result of people, researchers, families, and clinicians actively working to understand what is happening at a biological level and what might one day be made possible. The work at the Stowers Institute is a clear expression of that.

Investigator Jennifer Gerton, Ph.D., is pursuing research into the basic biological functions of the genes that, when mutated, cause CdLS. Her work is not speculative; it is contributing directly to a better understanding of the molecular basis of the syndrome and to the identification of pathways that could lead to meaningful therapeutic approaches.

What is being built here is the kind of foundational knowledge that treatments depend on. And because that work is connected to the Foundation’s broader network of families and clinicians, it is not happening in isolation. This work is happening in partnership with families, informed by their lived experience and centered on a future they are helping to shape.