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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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. Severe psychomotor and developmental delay and decreased muscle tone may also be present during infancy. Cognitive development during childhood is normal.
Last updated: 1/30/2011
- Dundar M, et al.. Am J Hum Genet. 2009; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790573/?tool=pubmed. Accessed 1/30/2011.
- 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.
- 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.