2025 – PAGE 254 – GENETICS & INHERITED DISEASES

WAARDENBURG SYNDROME

Patients with Waardenburg syndrome may present with albinism, a white forelock of hair, ocular albinism, different colored eyes (heterochromia), and/or deafness.

PEARL: The symptoms above are not a MUST. If you see a white forelock of hair in a patient with two blue eyes, you should still strongly consider this diagnosis.

MNEMONIC: Refer to “WAR” from the introductory mnemonic.

MNEMONIC: Imagine a scary WAARDEN with bleached WHITE HAIR walking around the jail grounds. He wears an odd pair of multicolored sunglasses. One lens is GREEN, and the other is BLUE. He always seems to be yelling angrily, but it’s probably just because he’s partially DEAF.

IMAGE: www.pbrlinks.com/WAARDENBURG1
IMAGE: www.pbrlinks.com/WAARDENBURG2
IMAGE: www.pbrlinks.com/WAARDENBURG3

APERT SYNDROME (AKA APERT’S OR APERTS SYNDROME)

Patients with Apert syndrome (AKA Apert’s syndrome) have an early cranial suture closure along with bilateral syndactyly (fused digits). They may also have choanal atresia and a cleft palate.

• NAME ALERT/MNEMONICS: Apert Syndrome, Alpers Syndrome and Alport’s Syndrome can be confused because of their names. Within the autosomal dominant mnemonic, “APE-alachian mountains” are used. The Appalachian Mountains are in North America, so keep that setting in mind as you go through the mnemonic again. For Alpers Syndrome, just remember that the Swiss ALPS are nowhere close to here! Alport Syndrome can be a little confusing. It is more commonly an X-linked dominant disease, but can be autosomal dominant as well. I recommend memorizing it as an X-linked disease. The mnemonic, “At Al’s PORT, X marks the spot where the boats have to dock,” can help you remember that Alport Syndrome is X-linked. If you are able to imagine that the X is made out of MINTS, it may help you remember that this is the disease that can be X-linked or autosomal dominant.

IMAGE: www.pbrlinks.com/APERT1
IMAGE: (Try to focus on the images and move on.) www.pbrlinks.com/APERT2

MNEMONIC: APE-alachian mountains in the introductory mnemonic

MNEMONIC: “A PEAR Syndrome” in which the head is shaped like a PEAR due to early suture closure. Now imagine the pear-shaped head being held by hands that look like a duck’s BILATERAL webbed flippers.

MNEMONIC: (image)