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Adducted thumb and clubfoot syndrome
Other Names for this Disease
- Adducted thumb clubfoot syndrome
- Autosomal recessive adducted thumb-club foot syndrome
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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]
References
- Dundar M, et al.. Am J Hum Genet. 2009. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790573/?tool=pubmed. Accessed January 30, 2011.
- Zhang L, Müller T, Baenziger JU, Janecke AR. Prog Mol Biol Transl Sci. 2010. http://www.ncbi.nlm.nih.gov/pubmed/20807649. Accessed January 30, 2011.
- Carbohydrate Sulfotransferase 14; CHST14. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/608429. Accessed January 30, 2011.
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General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Adducted thumb and clubfoot syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Adducted thumb and clubfoot syndrome. Click on the link to go to OMIM and review these resources.