Synonyms

Tooth/Nail Syndrome
Nail Dysplasias With Hypodontia

Witkop Syndrome is a Rare Genetic Condition Characterized by the Following


Teeth

  • Normal to small primary teeth
  • Partial to total absence of permanent teeth

Sweat Glands

  • Normal

Nails

  • 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

Hair

  • Normal
  • Thin in some individuals

Facial Features

  • Normal
  • 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

Causes

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.

Genetic Testing

Testing is available for Witkop syndrome.

Inheritance

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.