Spondylo-ocular syndrome

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.

Presentation

These can be divided into those affecting the eyes, spine and other areas: ^[2]

• 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. ^[1] It is inherited in an autosomal recessive manner. ^[1]

History

This syndrome was first described by Schmidt et al in consangineous Iraqi family in 2001. ^[3]

References

1. "OMIM Entry - # 605822 - SPONDYLOOCULAR SYNDROME; SOS". Online Mendelian Inheritance in Man . Retrieved 25 June 2019.
2. 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
3. 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