Orphanet: Trichodermodysplasia dental alterations syndrome
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Trichodermodysplasia-dental alterations syndrome

Disease definition

Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.

ORPHA:3353

Classification level: Disorder
  • Synonym(s):
    • Pinheiro-Freire Maia-Miranda syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: -
  • UMLS: C2931485
  • MeSH: -
  • GARD: 4369
  • MedDRA: -
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