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Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

What is Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome?

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.

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.