Spondyloepiphyseal dysplasia, Reardon type

What it is

A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short stature, vertebral abnormalities (including irregular vertebral endplates especially in the dorsal spine, lumbar lordosis, spondylolysis, spondylolisthesis), femoral abnormalities (including small femoral capital epiphyses, flat femoral head and subluxation and sloping acetabulum) and cervical spine abnormalities typically manifest as atlantoaxial subluxation and instability associated with os odontoideum. Affected individuals present with severe neurological complications following minor trauma due to cervical instability, including quadriparesis, brisk reflexes, clonus, spasticity, bulbar palsy and seizures. Additional clinical features may include mild joint laxity, short, clubbed fingers, wasting of small hand muscles, tongue fasciculations and progressive breathing difficulty. There have been no further descriptions in the literature since 1994.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Infancy, Neonatal

Inheritance

Autosomal dominant

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references