Spondylo-ocular syndrome
From Wikipedia, the free encyclopedia
Other namesSOS[1]
| Spondylo-ocular syndrome | |
|---|---|
| Other names | SOS[1] |
 | |
| Spondylo-ocular syndrome is inherited in an autosomal recessive manner. | |
| Specialty | Medical genetics  |
Spondylo-ocular syndrome is a rare genetic disorder characterised by lesions in the eye and the spine.
These can be divided into those affecting the eyes, spine and other areas:[2]
- Eyes
- Spine
- 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.[1] It is inherited in an autosomal recessive manner.[1]