46 Spondylocarpotarsal synostosis (sct) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosis and lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large forehead, and up-turned nostrils. other features can include cleft palate, deafness, loose joints, and poor formation of tooth enamel. sct syndrome has been associated with retinal anomalies and cataracts. however, these eye problems are usually not severe enough to impair vision. this condition is caused by mutations in the flnb gene. it is inherited in an autosomal recessive manner in families, which means that parents are usually unaffected and children have to have inherited a gene mutation from each parent
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Symptoms Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.