Wardenberg Syndrome?????

Question

My twin girls both have the white striped hair from this syndrome, but so far i see no white patches of skin that usually goes with it. they are preemies born @ 28 weeks I'm wondering if anyone has ever heard of having the hair but not the patches of white skin?

Answer 1

There are several variants of Waardenberg syndrome. It is associated with eyes of different color, a broad nasal root, and unfortunately, sometimes hearing loss. Waardenberg syndrome is usually dominant, so unless it is a new mutation, there are others with the condition in your family.

I suppose early on one could confuse the above with a type of partial albinism known as piebaldism. They have one or more white patches in the hair, not necessarily involving the forelock. And, they have white patches on the skin. Their eyes are usually the same color. The books say this condition is usually recessive, meaning that both parents carry the abnormal gene but may not express it. Thus the family history is negative. However, I had a family where piebaldism was expressed through several generations of the kinship.