I know you will find this website useful. I first became involved with the Williams Syndrome Foundation as a paediatric registrar in London. Over the subsequent 35 years I have met, talked to and enjoyed the company of many hundreds of children and adults with Williams Syndrome. I became fascinated by what these individuals teach us on so many levels. I came to recognize how the Syndrome was affecting them physically and mentally but also how their families could modify these genetic influences.
When the microdeletion was first recognised in 1993 there was an explosion of interest but many enigmas remain. Which are the dominant genes and how do they influence the neurological pathways? Why is hypercalcaemia linked to the syndrome? I hope that the website answers your questions and the Foundation is always willing to offer advice and support to both families and professionals. I chair the Professional Advisory Panel, which reviews research proposals from many colleagues across the UK and occasionally offers advice to clinicians. Do get in contact if you think we can help.
Dr Neil Martin MD, FRCPCH
East Kent Hospitals University FT
Kent and Canterbury Hospital
Canterbury CT1 3NG
As a professional you may also find it helpful to refer to our diagnosis page and also our list of Guidelines for children and adults with Williams Syndrome please contact enquiries@williams-syndrome.