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Trichoodontoonychial dysplasia

MedGen UID:
481087
Concept ID:
C3279457
Disease or Syndrome
Synonym: TRICHOODONTOONYCHIAL DYSPLASIA WITH BONE DEFICIENCY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0010153
OMIM®: 275450
Orphanet: ORPHA3355

Definition

Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrichoodontoonychial dysplasia

Recent clinical studies

Diagnosis

Pinheiro M, Pereira LC, Freire-Maia N
Br J Dermatol 1981 Oct;105(4):371-82. doi: 10.1111/j.1365-2133.1981.tb00768.x. PMID: 7295550

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