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
- 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 on the basis of physical features. Symptoms to look for in children:
- Abnormal nails
- Missing teeth
Witkop syndrome is caused by a mutation in the MSX1 gene located on chromosome 4p16. An affected parent may pass the gene mutation to a child or the condition may arise as the result of a gene mutation in a child with normal parents.
Testing is available for Witkop syndrome.
Witkop syndrome is inherited as an autosomal dominant disorder. An affected individual has a 50% change of passing the gene to a son or daughter.
You can fine more information on Witkop syndrome on Online Mendelian Inheritance in Man.