Hypoplastic enamel-onycholysis-hypohidrosis syndrome otherwise known as Wiktop syndrome, is a rare ectodermal dysplasia (a condition that affects hair, nail, skin, tooth, and sweat gland development).
Individuals affected with Wiktop’s syndrome typically have normal hair and functioning sweat glands; however, almost all affected have variable amounts of missing permanent or primary teeth and brittle, slow-growing, spoon-shaped nails. Toenails may be more affected than fingernails; moreover, nail defects are more noticeable during childhood and may disappear mostly or completely by adulthood. Wiktop syndrome is usually first diagnosed in children based on physical traits, such as missing teeth, abnormal lip structure, or spoon-shaped nails, though it is not confirmed until adult teeth fail to erupt.
Wiktop syndrome can be inherited within families and is caused by a mutation in the MSX1 gene found on chromosome 4. Genes are units of DNA that produce proteins responsible for normal bodily function and health. This genetic mutation is autosomal dominant, meaning an affected individual has a 50% chance of passing Wiktop syndrome onto his/her offspring.
The diagnosis may be confirmed via genetic testing to verify mutations in the MSX1 gene. There is no specific treatment for Wiktop syndrome; however, proper dental care and regular check-ups may be required to manage the dental symptoms.
If you or a family member has been diagnosed with hypoplastic enamel-onycholysis-hypohidrosis syndrome/Wiktop syndrome, speak with your doctor about the most current treatment options. Support groups may also be available for further resources and information.
Description Last Updated: Aug 21, 2018