For families

You’re not facing
Cornelia de Lange
alone

A Cornelia de Lange diagnosis can feel overwhelming. We’re a research foundation with a single focus — the science to treat it. Here you’ll find the family organizations who can support you day to day, and the research you can help move forward.

Who we are

A foundation focused on the science

However you found us, welcome. We’re a nonprofit working toward the first targeted treatment for Cornelia de Lange syndrome and its most common cause, the NIPBL gene — researchers, clinicians, and funders who refuse to accept that “manage it” is the end of the story.

We’re not a day-to-day support group — but we work alongside the CdLS family organizations who are, and we’ll always point you to them.

Resources

Practical tools for families

Practical resources you can bring to appointments.

Growth charts

Track growth over time with reference charts you can share with your care team.

Visit site

Developmental milestones

A skills chart to follow development at your child’s own pace, one milestone at a time.

Download PDF

A primer for pediatricians

What a general practitioner needs to know about CdLS in three pages. Print it and hand it over at the first appointment.

Download PDF

Surgery & anesthesia considerations

Airway, anesthesia, and pain-response cautions on a single sheet. Keep a copy in the bag for the appointment you didn’t plan.

Download PDF
Get involved

Help us reach the first treatment

Science moves faster when families push it. Three ways to help, starting today.

  1. 1
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    Work with us

    We’re actively looking for more people to join our effort. If you’re a caregiver, clinician, researcher or anyone who wants to do more, reach out to us.

    shivika@nipbl.org
  3. 3
    Know someone with Cornelia de Lange syndrome?

    Research is coming. Let us find you.

    If you have a loved one with a pathogenic NIPBL variant, let us find you. Add their variant and we'll reach out when a study or drug trial opens that they may be eligible for. Confidential and takes two minutes.

    Join the research list

    About two minutes. Private, never sold, and it commits you to nothing.