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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spondylocarpotarsal synostosis syndrome


Other Names for this Disease
  • Spondylocarpotarsal syndrome
  • SCT
  • Synspondylism congenital
  • Vertebral fusion with carpal coalition
  • Scoliosis, congenital with unilateral unsegmented bar
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Overview

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.[1]
Last updated: 2/26/2013

References

  1. Robertson S. FLNB-Related Disorders. GeneReviews. October 2008; http://www.ncbi.nlm.nih.gov/books/NBK2534/. Accessed 2/26/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Spondylocarpotarsal synostosis syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.
Other Names for this Disease
  • Spondylocarpotarsal syndrome
  • SCT
  • Synspondylism congenital
  • Vertebral fusion with carpal coalition
  • Scoliosis, congenital with unilateral unsegmented bar
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.