- Tooth and Nail Syndrome
- Nail Dysplasias With Hypodontia
Witkop Syndrome is a Rare Genetic Condition Characterized by the Following
- Normal to small primary teeth
- Partial to total absence of permanent teeth (hypodontia)
- Thin, small, easily broken
- Grow slowly
- Spoon shaped (concave)
- Longitudinal ridging in nails
- Pitting (depressions in the surface)
- Toenails often more affected than fingernails
- May improve with age
- Thin in some individuals
- Abnormal structure of the lip
Diagnosing Witkop Syndrome
A physician can diagnose Witkop syndrome or tooth and nail syndrome on the basis of physical features. Symptoms to look for in children:
Witkop syndrome is caused by a change in the MSX1 gene located on chromosome 4p16. An affected parent may pass the gene change to a child or the condition may arise as the result of a gene change in a child with normal parents.
Testing is available for Witkop syndrome. Find more resources about genetic testing, including costs, benefits and risks from Genes In Life.
Witkop syndrome is inherited as an autosomal dominant disorder. An affected individual has a 50% chance of passing the gene to a son or daughter.
You can fine more information on Witkop syndrome on Online Mendelian Inheritance in Man.
From the NFED Family
Read about the experiences of people affected by Witkop syndrome in our Stories of Hope:
It’s been a long road to get to this point, with a lot of hype, confusion, hope, pain, disappointment, and finally, joy! I’m so excited that I’ve finally begun this long process. I can actually say I’m looking forward to my next surgery. It will put me one step closer to getting my new smile, but until then, I’m going to keep on smiling anyway.Lucy Davies,
Keep On Smiling: The Story Of Lucy’s First Surgery
I want to tell others with ectodermal dysplasia to never give up. Keep looking for the right dentists and doctors. It took me 10 years trying to find the right help but I did. I took pictures along the way and it was great to see my transformation. It’s amazing when you hit rock bottom and come back from that!Cheryl Kingsford,