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Ectodermal dysplasia with natal teeth, Turnpenny type

Disease definition

A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.

ORPHA:69083

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Neonatal
  • ICD-10: -
  • OMIM: 601345
  • UMLS: C1832444
  • MeSH: -
  • GARD: 10526
  • MedDRA: -
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