What is Williams-Beuren Region Duplication Syndrome?
Williams-Beuren Region Duplication Syndrome also referred to as 7q11.23 duplication syndrome, is a rare disorder that leads to intellectual disability and global developmental delays in those affected.
This syndrome is also known as:
Chromosome 7q11.23 Duplication Syndrome; Somerville-van Der Aa Syndrome; WBS Duplication Syndrome
What gene changes cause Williams-Beuren Region Duplication syndrome?
The syndrome is caused by the duplication of genetic material on the long arm of chromosome 7, specifically the 7q11.23 region.
It can be inherited in an autosomal dominant pattern but most cases so far have been the result of de novo, or a new duplication.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Williams-Beuren Region Duplication syndrome?
The main symptoms of the syndrome include intellectual disability and developmental delay. This delay covers speech, language, and motor skills development with speech and language being most severely affected.
Unique facial characteristics of the syndrome include a large head (macrocephaly), and facial dysmorphism, including amongst other features low set ears, a small jaw, and a sloping forehead. Low muscle tone or hypotonia is also common with the syndrome.
Other serious health conditions associated with the syndrome include seizures, as well as brain and heart defects with supravalvular aortic stenosis being the most commonly associated heart abnormality. Hypercalcemia is also frequently described.
How is it diagnosed?
To find out if someone has a diagnosis of Williams-Beuren Region Duplications syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
