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Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome(SEMDAD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Spondyloepimetaphyseal dysplasia with abnormal dentition
Monarch Initiative: MONDO:0011124
OMIM®: 601668
Orphanet: ORPHA168451


Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Follow this link to review classifications for Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome in Orphanet.

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