Spondylo ocular syndrome

Updated on Jan 09, 2024

Edit

Comment

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

History

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

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

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

(Text) CC BY-SA