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Williams Syndrome


What is Williams syndrome?
Williams syndrome, also known as Williams-Beuren syndrome, is a genetic condition which occurs when a person is missing part of the genetic material on one copy of chromosome 7. It is present at birth and affects development. It has been thought to occur in 1 in 10,000 live births, however, some recent studies estimate that it occurs in up to 1 in 7,500 live births.

Diagnosis of Williams syndrome is based on a variety of physical features, like facial structure, and developmental characteristics, such as learning disabilities. This syndrome is usually caused by a random mutation, so parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each child.

What is the connection between Williams syndrome and celiac disease?

  • Researchers in Italy have shown that celiac disease coexists with Williams syndrome. In a 2001 study, Giannotti et al. found that the prevalence of celiac disease among patients with Williams syndrome was 9.6%. On this basis, Giannotti et al. recommend antibody screening for celiac disease in patients with Williams syndrome.
  • The occurrence of celiac disease in patients with Williams syndrome has been described by different authors. A 2014 study found that the prevalence of celiac disease in Turkish children already diagnosed with Williams Syndrome was 3%.


Do you or a family member suffer from this disease? You may have celiac disease. Find out now; take our celiac disease symptoms checklist.


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