spondyloepiphyseal dysplasias
Last reviewed 01/2018
These are conditions that are characterised by flattening and irregularity of the vertebrae and delay in ossification of the vertebral bodies. These changes are not pathognomonic because vertebral irregularity may also occur in multiple epiphyseal dysplasias. This condition can only be accurately diagnosed from serial radiological assessments of the vertebrae at various ages.
This condition may be present with skeletal dysplasia at birth, ie spondyloepiphyseal dysplasia congenita, or be a cause of short stature in childhood, spondyloepiphyseal dysplasia tarda.
The pattern of inheritance of spondyloepiphyseal dysplasia congenita is autosomal dominant. Spondyloepiphyseal dysplasia tarda appears in both autosomal dominant and X-linked forms.