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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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



What is adducted thumb and clubfoot syndrome?

What are the symptoms of adducted thumb and clubfoot syndrome?


What is adducted thumb and clubfoot syndrome?

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

What are the symptoms of adducted thumb and clubfoot syndrome?

Adducted thumb-clubfoot syndrome is characterized by typical facial appearance, slight build, thin and translucent skin, severely adducted thumbs, arachnodactyly, clubfeet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects.[1] Severe psychomotor and developmental delay and decreased muscle tone may also be present during infancy.[4] Cognitive development during childhood is normal.[2] 
Last updated: 1/30/2011

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.
  4. Robert-Gnansia E. Adducted thumbs-arthrogryposis, Dundar type. Orphanet. 2003; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2953. Accessed 1/30/2011.