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The information for this summary of AHDC1-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full AHDC1 Gene Guide
The online Gene Guide includes more information about AHDC1 such as the chance of having another child with this condition, behavior and development concerns linked to AHDC1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
AHDC1-related syndrome is also called Xia-Gibbs syndrome. For this webpage, we will be using the name AHDC1-related syndrome to encompass the wide range of variants observed in the people identified.
What is AHDC1-related syndrome?
AHDC1-related syndrome happens when there are changes in the AHDC1 gene. These changes can keep the gene from working as it should.
Key Role
The AHDC1 gene plays a key role in the growth of the brain.
Symptoms
Because the AHDC1 gene is important for brain activity, many people who have AHDC1-related syndrome have:
- Developmental delay
- Intellectual disability
- Speech delay
- Motor delay
- Difficulty walking
- Sleep apnea, a disorder in which breathing stops and starts
- Seizures
- Hearing difficulty
- Brain changes seen on magnetic resonance imaging (MRI)
- Movement issues, such as ataxia
- Vision issues
- Behavioral issues, such as autism
- Curvature of the spine, also called scoliosis
- Softening of the voice box that may result from noisy breathing
How many people have AHDC1– related syndrome?
As of 2024, about 270 people with AHDC1-related syndrome have been identified in a medical clinic. The first case of AHDC1-related syndrome was described in 2014. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Support Resources
- Simons Searchlight Community – AHDC1 Facebook group
- AHDC1 Foundation Website – Xia-Gibbs.org
- Geisinger Developmental Brain Disorder Gene Database – AHDC1
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 AHDC1
Research Article Summaries
Below, we’ve summarized research articles about changes in the AHDC1 gene. We hope you find this information helpful.
The information available about AHDC1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 AHDC1 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 Article Summaries
- De novo truncating mutations in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay
- De novo truncating mutations in AHDC1 in people with syndromic expressive language delay, hypotonia, and sleep apnea
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about AHDC1 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.