Below is a summary for the NIPBL gene observed in research publications. This is not meant to take the place of medical advice.
What is Cornelia de Lange syndrome 1?
Cornelia de Lange syndrome 1 most often happens when there are changes in the NIPBL gene. These changes can keep the gene from working as it should.
Genetic variants in other genes can also result in a person having this syndrome.
The NIPBL gene plays an important role in human development and cell division all over the body.
Because the NIPBL gene is important for many parts of the body, some people may have:
- Heart defects
- Pneumonia more often
- Gastrointestinal reflux and feeding issues
- Genital issues in males
- Various kidney structure and function problems
- Intellectual disability
- Higher than average muscle tone
- Language delay
- Low-pitched growling cry in infants
- Hearing loss
Do people who have Cornelia de Lange syndrome 1 look different?
People who have Cornelia de Lange syndrome 1 may look different. Appearance can vary and can include some but not all of these features:
- Short height, following their own growth curves
- Growth failure that might be seen on ultrasound
- Smaller than average head size
- Small jaw
- Low-set ears
- Heavy eyelids
- Long curly eyelashes
- Thin upper lip
- Short neck
- Blushing more often than average
- Limb and hand development issues
How many people have Cornelia de Lange syndrome 1?
As of 2022, more than 200 people in the world with Cornelia de Lange syndrome 1 have been described in medical research. The syndrome happens in about 1 in every 10,000 to 1 in every 30,000 newborns.
- 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 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.
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.
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