Spondylocarpotarsal synostosis syndrome
Other Names for this Disease
- Spondylocarpotarsal syndrome
- Synspondylism congenital
- Vertebral fusion with carpal coalition
- Scoliosis, congenital with unilateral unsegmented bar
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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.
- Genetics Home Reference (GHR) contains information on Spondylocarpotarsal synostosis syndrome. This website is maintained by the National Library of Medicine.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.