Ehlers-Danlos syndrome, musculocontractural type
Other Names for this Disease
- Autosomal recessive adducted thumb-club foot syndrome
- Adducted thumb clubfoot syndrome
- Congenital disorder of glycosylation with developmental anomaly
- Ehlers-Danlos syndrome
autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development. This condition is caused by mutations in the CHST14 gene.Adducted thumb and clubfoot syndrome (ATCS) is an
Last updated: 6/3/2011
- Dundar M, et al.. Am J Hum Genet. 2009; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790573/?tool=pubmed. Accessed 1/30/2011.
- Zhang L, Müller T, Baenziger JU, Janecke AR. Prog Mol Biol Transl Sci. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20807649. Accessed 1/30/2011.
- 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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- 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.