What are the symptoms of Waardenburg syndrome?

Question

Hello doctor,

In the attached image, there can be seen as a reflection of light or white forelock. He looks to me to be between 18 and 21. His eyes are bright blue, and it cannot be seen in the picture. I am wondering if he can be diagnosed with Waardenburg syndrome 2.

Answer 1

Hello,

Welcome to icliniq.com.

It is difficult to differentiate between syndrome 1 and 2. But with the forelock of hair, he may have Waardenburg. But we must see if there is any hearing loss or defect in arms and other limbs. Can you provide more details? Any history of hearing loss? Congenital hearing loss is present in most cases. The syndrome affects 1 in 40k births. Any family history suggestive of the altered gene in the subject?

Answer 2

Hello,

Welcome back to icliniq.com.

I cannot make out any unpigmented spots. Additionally, I cannot make out a white forelock as he seems to have grey hairs everywhere. But the forehead does appear to have some hypopigmentation.