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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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Symptoms

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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.[2] Cognitive development during childhood is normal.[3] 
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. 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.
  3. 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.


Other Names for this Disease
  • Adducted thumb clubfoot syndrome
  • Autosomal recessive adducted thumb-club foot syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.