title: Spondylo-ocular syndrome
text: # 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.
  
  