Spondylo-ocular syndrome
# Spondylo-ocular syndrome

Spondylo-ocular syndrome is a rare genetic disorder characterised by lesions in the eye and the spine.

## Presentation

These can be divided into those affecting the eyes, spine and other areas:

* Eyes
   * amblyopia
   * cataracts
   * nystagmus
   * retinal detachment
* Spine
   * normal height with disproportionate short trunk
   * immobile spine
   * thoracic kyphosis
   * reduced lumbar lordosis
   * pathological fractures of the vertebral bodies
* Other features
   * facial dysmorphism
   * facial hypotonia
   * low posterior hairline
   * short webbed neck
   * low set ears
   * mitral valve prolapse
   * aortic valve malformation
   * dilated ureters
   * sensineural deafness

## Genetics

This syndrome is caused by inactivating mutations in the xylosyltransferase (XYLT2) gene. It is inherited in an autosomal recessive manner.

## History

This syndrome was first described by Schmidt et al in consanginous Iraqi family in 2001.

