Rare congenital neurological and skin disorder, with port-wine stains of face, glaucoma, seizures, mental retardation, and cerebral malformations and tumors.Encyclopedia Entry for Sturge-Weber Syndrome :Sturge-Weber syndrome. In many people, the cause of Sturge-Weber is due to a mutation of the GNAQ gene. This gene affects small blood vessels called capillaries. Problems in the capillaries cause the port-wine stains to form. Sturge-Weber is not thought to be passed down (inherited) through families.Symptoms of SWS include: Port-wine stain (more common on the upper face and eye-lid than the rest of the body) Seizures Headache Paralysis or weakness on one side Learning disabilities Glaucoma (very high fluid pressure in the eye) Low thyroid ( hypothyroidism ).Glaucoma may be one sign of the condition. Tests may include: CT scan MRI scan X-rays.Treatment is based on the person's signs and symptoms, and may include: Anticonvulsant medicines for seizures Eye drops or surgery to treat glaucoma Laser therapy for port-wine stains Physical therapy for paralysis or weakness Possible brain surgery to prevent seizures.The following resources can provide more information on SWS: The Sturge-Weber Foundation -- sturge-weber.org National Organization for Rare Disorders -- rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/sturge-weber-syndrome.SWS is usually not life threatening. The condition does need regular lifelong follow-up. The person's quality of life depends on how well their symptoms (such as seizures) can be prevented or treated. The person will need to visit an eye doctor (ophthalmologist) at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.These complications can occur: Abnormal blood vessel growth in the skull Continued growth of the port-wine stain Developmental delays Emotional and behavioral problems Glaucoma, which may lead to blindness Paralysis Seizures.The health care provider should check all birthmarks, including a port-wine stain. Seizures, vision problems, paralysis, and changes in alertness or mental state may mean the coverings of the brain are involved. These symptoms should be evaluated right away.There is no known prevention.Encephalotrigeminal angiomatosis; SWS.Sturge-Weber syndrome - soles of feet Sturge-Weber syndrome - soles of feet Sturge-Weber syndrome - legs Sturge-Weber syndrome - legs Circulatory system Circulatory system Port wine stain on a child Port wine stain on a child's face Deep veins Deep veins.Flemming KD, Brown RD. Epidemiology and natural history of intracranial vascular malformations.