Terminology Service for NFDI4Health

Tooth and Nail Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C40553


A rare genetic disorder with an autosomal dominant pattern of inheritance. It is associated with mutations in the MSX-1 gene on chromosome 4 which alter ectodermal morphogenesis. Characteristic clinical signs include absent or poorly-formed dentition and brittle, spoon-shaped finger and toenails. Clinical course features an increased incidence of dental caries but is essentially benign. [ ]

Term info

Label

Tooth and Nail Syndrome

Synonyms
  • HND
  • Hypodontia and Nail Dysplasia
  • Hypodontia with Nail Dysplasia
  • Hypodontia-Nail Dysplasia
  • Tooth and Nail Syndrome
  • Witkop Syndrome
Legacy Concept Name

Tooth_and_Nail_Syndrome

Preferred Name

Tooth and Nail Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0406735

code

C40553