Below is a summary for the CSNK2A1 gene observed in research publications. is is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with CSNK2A1 responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!
To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”
VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.
What is CSNK2A1-related syndrome?
CSNK2A1-related syndrome happens when there are changes to the CSNK2A1 gene. These changes can keep the gene from working as it should. CSNK2A1-related syndrome is also called Okur-Chung neurodevelopmental syndrome.
The CSNK2A1 gene plays different roles in the body, including helping to control the birth of new cells and helping to control the day to night cycle of cells.
Because the CSNK2A1 gene is important in the development and function of brain cells, many people who have CSNK2A1-related syndrome have:
- Physical changes
- Intellectual disability
- Other developmental issues
Do people who have CSNK2A1-related syndrome look different?
People who have CSNK2A1-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Short height
- Smaller than average head size, also called microcephaly
- Round face
- Arched eyebrows
- A fold of skin from the upper eyelid, also called epicanthic folds
- Low set ears and changes in the ear folds
- Wide nasal bridge
- Smaller than average jaw, also called micrognathia
Research Article Summaries
Previous Registry Reports