Sturge–Weber syndrome

High school (ages 12+)
Human Body

Name:

Date:

Step 1 · Read the article

Open the article and read it at the level above. Then answer the questions below in your own words.

https://smallwhale.org/articles/sturge-weber-syndrome

Write what each word means, using the article.

Do not copy the article. Write two things you learned, the way you would explain them to a friend.

Answers below are taken from the article’s stored facts, so they match what the student read.

1. What is the prevalence?Estimated to occur in approximately 1 in 50,000 live births
2. What is the etiology?Somatic mosaic activating mutation in the GNAQ gene
3. What is Sturge-Weber syndrome?It is a rare condition that starts before a baby is born. It causes a bright red birthmark on the face and can affect the brain and eyes.
4. Why do people with Sturge-Weber have a port‑wine stain?The stain is made by extra blood vessels that grow too much during early development. It usually appears on one side of the face.

Mosaicism: The presence of two or more genetically distinct cell populations within a single individual.
Angiomatosis: The abnormal proliferation of blood vessels, forming angiomas or malformations.
Leptomeningeal: Pertaining to the pia mater and arachnoid mater, the inner membranes of the brain and spinal cord.