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Trichodermodysplasia-dental alterations syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Pinheiro Freire-Maia Miranda syndrome; Trichodermodysplasia with dental alterations
SNOMED CT: Pinheiro, Freire Maia, Miranda syndrome (763620003); Trichodermodysplasia and dental alterations syndrome (763620003)
Monarch Initiative: MONDO:0018061
Orphanet: ORPHA3353


A rare genetic ectodermal dysplasia syndrome with characteristics of 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, cafe 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrichodermodysplasia-dental alterations syndrome

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