Spondylo-ocular syndrome
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.[1]
Genetics
This syndrome is caused by inactivating mutations in the xylosyltransferase (XYLT2) gene. It is inherited in an autosomal recessive manner.
Clinical features
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
References
- ↑ Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T (2001) Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguineous kindred - a possible new syndrome. Clin Genet 59: 99-105
- ↑ Munns CF, Fahiminiya S, Poudel N, Munteanu, MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME (2015)Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. Am J Hum Genet 96: 971-978
This article is issued from Wikipedia - version of the 7/19/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.