Waardenburg syndrome

Question 1

Waardenburg sketch

Answer 1

Picture a soldier going to”war” for waardenberg

• He has a back pack where he “PAX his MITtens, and PAX his SOX” to remind you of the gene mutations in order for types I-IV (1+3 are PAX3, 2 is MITF, 4 is SOX10
• all of these genes play a role in melanocytes in some way (so pigment is affected)
• Imagine the soldier with a white forelock of hair, and widely spaced eyes so hes got good peripheral vision on the battle field (due to lateral displacement of inner canthi, but interpupillary distance is normal), two different colored eyes (heterochromia irides), and a unibrow (synophrys)
• Imagine the soldier plugging his ears as a bomb goes off representing the deafness that occurs
• Imagine the skin on his chest is depigmented with islands of sparing from shrapnel that he took that destroyed the pigment
• also remember that his arms look small as parts of them were blown off at war (upper limb abnormalities, hypoplasia, contractures, and syndactyly)
• Also remember that his legs are crossed as he is holding in his poop reminding you of the difficulty passing stool due to Hirschprings disease (in type IV)

Question 2

Waardenberg subtypes classical findings:

Answer 2

type 1= White forelock, unibrow, heterochromia irides, dystopia canthorum (wide eyes), deafness

type 2= similar to 1 but no wide space eyes and deafness is MORE common

type 3= similar to type 1, plus upper limb abnormalities

type 4= similar to type 1 plus hirschsprungs disease