What's Up Doc? Sturge-weber Syndrome

WHAT'S UP DOC? Sturge-Weber syndrome

Q: My friend’s baby was just diagnosed with Sturge-Weber syndrome. What is this?A: Sturge-Weber syndrome (SWS) is a rare congenital disease, affecting about 1 in 20,000 to 50,000 babies. It occurs sporadically due to a spontaneous mutation of the GNAQ gene of chromosome 9q21, so it is not a condition that runs in families.Almost all patients with SWS have a port wine stain birthmark (a large deep red birthmark) on their face; in a small [...]

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