Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

Definition

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.

Also identified as