Spondyloocular syndrome (SOS) is a rare autosomal recessive disorder due to mutations in the XYLT2 gene. XYLT2 encodes one of the xylosyltransferases involved in proteoglycan biosynthesis. The affected individuals were found to produce lower amount of chondroitin and heparan sulfate. Clinically, the major features include crystalline lens malformation, cataract, retinal detachment that result in loss of vision, facial dysmorphism, generalized osteoporosis, and immobile spine and platyspondyly.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01496 Spondyloocular syndrome
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
nt06029 Glycosaminoglycan biosynthesis
H01496 Spondyloocular syndrome
