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.