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Spondylocarpotarsal synostosis syndrome
Other Names for this Disease
- Scoliosis, congenital with unilateral unsegmented bar
- Spondylocarpotarsal syndrome
- Synspondylism congenital
- Vertebral fusion with carpal coalition
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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.Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate
Last updated: 2/26/2013
- Robertson S. FLNB-Related Disorders. GeneReviews. October 2008; http://www.ncbi.nlm.nih.gov/books/NBK2534/. Accessed 2/26/2013.
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- Genetics Home Reference (GHR) contains information on Spondylocarpotarsal synostosis syndrome. This website is maintained by the National Library of Medicine.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Spondylocarpotarsal synostosis syndrome. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Spondylocarpotarsal synostosis syndrome. Click on the link to view a sample search on this topic.