Sturge-Weber syndrome (SWS) is a neurogenetic disorder that is present at birth, and it is not hereditary. Recently, the NIH Rare Disease Clinical Research Consortium discovered that the underlying cause of SWS is a somatic mosaic mutation in the GNAQ gene. This disorder is commonly characterized by a facial port-wine birthmark, neurological abnormalities, and eye or other internal organ abnormalities. Each person with SWS will present with different manifestations of varying degrees.
The Sturge-Weber Syndrome Program at Boston Children's Hospital held a webinar for families affected by SWS. The speakers included Mustafa Sahin, MD, PhD, Anna Pinto, MD, PhD, Masanori Takeoka, MD, and Catherine Petty, MEd, LMHC. Click on the below link to view the webinar! [You will need Adobe Connect installed on your computer in order to watch the webinar].