Autosomal dominant mutation of MSX1 gene causing tooth and nail syndrome

Pan Afr Med J. 2020 Jul 29:36:229. doi: 10.11604/pamj.2020.36.229.23019. eCollection 2020.

Abstract

Tooth and Nail Syndrome or Nail Dysplasias with Hypodontiaor Witkop´s Syndrome is an autosomal dominant condition present at birth and improves by age. An early diagnosis is essential to avoid future functional, aesthetic, and psychological problems. Here we report two classic cases with brief clinical, radiological and genetic investigation along with a brief review of literature.

Keywords: Partial anodontia; tooth and nail syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Anodontia / diagnosis*
  • Anodontia / genetics
  • Female
  • Humans
  • MSX1 Transcription Factor / genetics*
  • Mutation
  • Nails, Malformed / diagnosis*
  • Nails, Malformed / genetics

Substances

  • MSX1 Transcription Factor
  • MSX1 protein, human

Supplementary concepts

  • Witkop syndrome