Orphanet: Spondyloepimetaphyseal dysplasia abnormal dentition syndrome
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Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

Disease definition

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.

ORPHA:168451

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: Q77.7
  • OMIM: 601668
  • UMLS: C1866507
  • MeSH: -
  • GARD: -
  • MedDRA: -
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