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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome, musculocontractural type


Other Names for this Disease
  • Adducted thumb clubfoot syndrome
  • Adducted thumb-clubfoot syndrome
  • Adducted thumbs-arthrogryposis syndrome, Dundar type
  • ATCS
  • Autosomal recessive adducted thumb-club foot syndrome
Related Diseases
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Overview

Adducted thumb and clubfoot syndrome (ATCS) is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development.[1][2] This condition is caused by mutations in the CHST14 gene.[2][3] 
Last updated: 6/3/2011

References

  1. Dundar M, et al.. Am J Hum Genet. 2009; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790573/?tool=pubmed. Accessed 1/30/2011.
  2. Zhang L, Müller T, Baenziger JU, Janecke AR. Prog Mol Biol Transl Sci. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20807649. Accessed 1/30/2011.
  3. Carbohydrate Sulfotransferase 14; CHST14. Online Mendelian Inheritance in Man (OMIM). 2010; http://www.ncbi.nlm.nih.gov/omim/608429. Accessed 1/30/2011.
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In Depth Information

  • 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 Ehlers-Danlos syndrome, musculocontractural type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Adducted thumb clubfoot syndrome
  • Adducted thumb-clubfoot syndrome
  • Adducted thumbs-arthrogryposis syndrome, Dundar type
  • ATCS
  • Autosomal recessive adducted thumb-club foot syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.