What is Down Syndrome?

Down syndrome is a genetic disorder that occurs when abnormal cell division causes an individual to develop an extra chromosome. Having an extra chromosome means that people with Down syndrome have more genetic material than the typical human.

Each individual with Down syndrome is unique. Common physical characteristics of Down syndrome include small stature, an upward slant of eyes, flattened facial features, and low muscle tone. Some individuals with Down syndrome may experience different intellectual and developmental delays.

People with Down syndrome are also at increased risk for other medical conditions, such as heart defects, leukemia, infectious disease, and obesity.

Down syndrome is the most common chromosomal disorder, affecting 1 in every 691 babies born in the US.

What is the Connection Between Celiac Disease and Down Syndrome?

• A 2025 study found the prevalence of celiac disease in children with Down syndrome was 7.5%. They also found that these children were more likely to have blood test results 10 times higher than the upper limit of normal compared to the control group of children with celiac disease but without Down syndrome, and that blood levels of the children in the control group normalized more quickly than the children with Down syndrome. Children with Down syndrome and celiac disease also had fewer symptoms than the control group of children without Down syndrome.  
• Studies in 2018 and 2019 show 6% of those with Down syndrome have celiac disease, which is higher than the 1% of the general population that develops celiac disease.
• Children with Down syndrome and celiac disease may have typical symptoms like diarrhea, abdominal pain, or poor growth, but they may also have atypical symptoms like behavioral changes or anemia.
• Experts recommend frequent celiac disease screening in those with Down syndrome because of their increased risk. Having the genetic test for celiac disease early on could help parents of children with Down syndrome know if their child is at risk.
• There is no benefit to parents of children with Down syndrome putting a child on a gluten-free diet without a diagnosis of celiac disease.

Where can I learn more?

• National Down Syndrome Society (NDSS)
  
• National Institutes of Health
• Mayo Clinic
• Children’s Hospital of Philadelphia
• MassGeneral Down Syndrome Program

Do you or a family member have Down syndrome? You may have celiac disease. Find out now. Take our Celiac Disease Symptoms Checklist.