NIPBL
Below is a summary for the NIPBL gene observed in research publications. This is not meant to take the place of medical advice.
Click here for our full NIPBL Gene Guide
The online Gene Guide includes more information about NIPBL such as the chance of having another child with this condition, behavior and development concerns linked to NIPBL-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
NIPBL-related syndrome is also called Cornelia de Lange syndrome 1. For this webpage, we will be using the name NIPBL-related syndrome to encompass the wide range of variants observed in the people identified.
Genetic variants in other genes can also result in a person having Cornelia de Lange syndrome.
What is NIPBL-related syndrome?
NIPBL-related syndrome happens when there are changes in both copies of the NIPBL gene. These changes can keep the gene from working as it should.
Key Role
The NIPBL gene plays an important role in human development and cell division throughout the body.
Symptoms
Because the NIPBL gene is important for development, some people may have:
- Intellectual disability
- Language delay
- Heart defects
- Frequent pneumonia
- Gastrointestinal reflux and feeding issues
- Genital issues in males
- Various kidney structure and function problems
- Higher than average muscle tone
- Low-pitched growling cry in infants
- Hearing loss
- Seizures
- Self-injury behavior
How many people have NIPBL-related syndrome?
As of 2025, about 471 people with NIPBL-related syndrome have been identified in medical research. Cornelia de Lange syndrome is estimated to occur in 1 in 10,000 to 1 in 30,000 births.
Cornelia de Lange syndrome is caused by a genetic variant in NIPBL in more than one-half of people identified.
Support Resources
- Simons Searchlight Community – NIPBL Facebook group
- Cornelia de Lange Syndrome Foundation website – cdlsusa.org
– Cornelia de Lange Syndrome Foundation – Twitter - CDLS Awareness and Support website – cdlsawareness.org
– CDLS Awareness and Support – Facebook page - Geisinger Developmental Brain Disorder Gene Database – NIPBL
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
Check out the GeneReviews for Cornelia de Lange Syndrome.
Research Article Summaries
We currently do not have any article summaries for NIPBL, but we add resources to our website as they become available.
The information available about NIPBL is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for NIPBL articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about NIPBL genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
Family Stories
We do not currently have any stories from NIPBL families.
Click here to share your family’s story!