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Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

MedGen UID:
387969
Concept ID:
C1858032
Disease or Syndrome
Synonym: Cortical defects wormian bones and dentinogenesis imperfecta
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0011501
OMIM®: 604922
Orphanet: ORPHA166277

Definition

A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Follow this link to review classifications for Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia in Orphanet.

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