We’ve been aware that Linda seems to be thirsty, drinking plenty of liquids and also goes to the toilet frequently… so much so that we asked the GP to check her out for diabetes. That’s a quick dipstick test in a sample of urine – tricky to get the urine, simple to do the test! […]
Williams Syndrome Deletion – Why?
If you’ve ever entered “Williams Syndrome” into an internet search engine you’ve probably also received an answer that describes it as a complex condition caused by a microdeletion of a small number of genes from one copy of Chromosome 7, but what does that mean? Williams Syndrome Genetics The many possible symptoms of Williams Syndrome […]
Williams Syndrome Symptoms
If you’re searching for this information the chances are that you know someone who has, or may have Williams Syndrome. My sister was only diagnosed in her 40s. My parents struggled to understand what was happening with their child… I hope most people are now diagnosed as children and have much better support from various […]
Williams syndrome – a description from Wikipedia
Williams syndrome (WS or WMS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7. It is characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers;