2025 – PAGE 265 – GENETICS & INHERITED DISEASES

WILLIAMS SYNDROME (AKA incorrectly as WILLIAM’S SYNDROME)

In Williams Syndrome (AKA William’s Syndrome), while patients have mild intellectual disability, they also have a fun, “cocktail party” personality, so they get along great with other people. Facial features include an elf-like face (“ELFIN” FACE), a low and flat nasal bridge, an upturned nose, a smooth philtrum, and wide-spaced teeth. Other problems include SUPRAvalvular aortic stenosis (not involving the valve, but the aorta itself), peripheral pulmonic stenosis, and hypercalcemia. Patients can occasionally also have hypothyroidism.

PEARL: If you see the word SUPRAvalvular stenosis, have a HIGH suspicion for this diagnosis.

IMAGE: www.pbrlinks.com/WILLIAMS1
IMAGE: www.pbrlinks.com/WILLIAMS2

MNEMONIC: Think of your favorite (or least favorite) celebrity with the last name Williams for this mnemonic: Serena Williams for instance? Robin Williams? Vanessa Williams? Now imagine Serena WILLIAMS at a PARTY riding a COW around the PERIPHERY of the group. The cow has an ELFIN FACE and WIDELY-SPACED TEETH. Serena WILLIAMS is having fun but ISN’T TOO SMART. She tries to make the cow go fast and then JUMP OVER A HURDLE. The COW suddenly stops and Serena WILLIAMS goes flying off the COW. She flies OVER THE HURDLE, and as she lands, her PHILTRUM hits a rock. Serena WILLIAMS’ PHILTRUM is now LONG, and her nose is UPTURNED. Now Serena WILLIAMS is in the middle, with the group on the PERIPHERY taking care of her.

• KEY: PARTY represents the personality, COW represents calcium for dairy products, PERIPHERY represents peripheral pulmonic stenosis, ISN’T TOO SMART represents the mild intellectual disability, and JUMP OVER THE HURDLE represents supravalvular stenosis (if you remember nothing else, remember THIS finding).