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.
Research Article Summaries