What is Sturge-Weber syndrome?

Sturge-Weber syndrome is a congenital disorder that affects the skin, the neurological system, and sometimes the eyes. It is not curable, but it is not fatal.

It is also known as encephalotrigeminal angiomatosis, encephalofacial angiomatosis, or Sturge-Weber-Dimitri syndrome.

A person who has Sturge-Weber syndrome is born with it. The cause is unknown, but it could be due to a developmental problem in early pregnancy. It may be inherited.

According to the National Organization for Rare Diseases (NORD), about 1 in every 50,000 people in the United States is born with Sturge-Weber syndrome.

About 3 in every 1,000 newborns a have a port-wine stain, which is a cutaneous capillary malformation, a problem with the capillaries just under the skin.

The stain is an indication that the capillaries are affected, but Sturge-Weber syndrome has neurological implications too. It is known as a neurocutaneous disorder.

Around 6 percent of children born with a port-wine stain on the face will have Sturge-Weber syndrome. If an infant has a stain near the ophthalmic branch of the trigeminal nerve, there is a 26 percent chance that this will indicate Sturge-Weber syndrome.

The condition affects males and females equally.

Signs and symptoms of Sturge-Weber syndrome

[eye test]
It is important for people with Sturge-Weber syndrome to have a regular eye examination.

The hallmark sign of Sturge-Weber syndrome is the birthmark. It normally affects the forehead and an upper eyelid, and it may affect both sides of the face. This is related to an abnormal development in the brain.

The discoloration is due to an over-abundance of capillaries around the ophthalmic branch of the trigeminal nerve.

The mark can vary in color from deep purple to light pink. It is very rare for a person with Sturge-Weber syndrome not to have a mark on the face.

There may also be seizures, weakness on one side of the body, glaucoma, and developmental delay.

The seizures and developmental delay are due to an extra layer of blood vessels over the surface of the brain.

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Health issues and complications

Sturge-Weber syndrome is associated with several health problems. Most of these emerge during the first 12 months of life.

Neurological problems may include weakness, paralysis, and convulsions. If the birthmark is on one side of the face, these symptoms usually affect the opposite side of the body.

Convulsions, or seizures, often appear before the age of 12 months, and they may worsen with age. Infants who have seizures before the age of 2 years may also have learning difficulties.

Eye problems may occur, and around 70 percent of individuals with Sturge-Weber syndrome develop glaucoma.

Glaucoma is an accumulation of fluid in the eye that causes an elevation in pressure. Without treatment, the optic nerve and nerve fibers in the retina can become damaged, and the patient can go blind.

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