Heterochromia iridum, Brachydactyly type D and Leukonychia partialis

Patient

Q: I have Brachydactyly type D, Heterochromia iridum (presented in the eyes and hair) and also Leukonychia partialis (which never goes away.) I am wondering if there might be some sort of disorder that would tie the three of these together.

My Heterochromia iridum is not from injury and we have not been able to find a family member with this. As is the same with my Brachydactyly type D. Some people have wondered about the chimera condition but I find this highly unlikely.

Doctor

A:   Thank you for your question. Brachydactyly type D is often referred to colloquially as 'clubbed thumb'. It is a genetically inherited trait characterized by the last bone of the thumb being short and rounded, with a wide nail bed. Heterochromia iridum is a rare genetically inherited trait resulting in a difference in the colour of the iris of each eyes, and changes in hair colour. The two of these traits can be associated with some diseases such as down syndrome and other rare inherited diseases. However, you have not described any symptoms which would lead us to surmise that you may have one of these. It is likely that in your cares you have both of these traits and they are unrelated. Leukonychia partialis on the other hand could be caused by stress, injury or infection to the nails. However, since the presence of this has been long standing in your case, it is possible that you could be suffering from a nutritional deficiency such as in zinc, or protein. Also, this could also be as symptom of heavy metal poisoning (lead or mercury). Your first two conditions do not concern us as much as Leukonychia partialis. We would like you to consult your doctor and have appropriate blood tests performed to see if you are deficient in any essential nutrients or at all you have heavy metal poisoning which needs to be treated immediately.

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