National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Musculocontractural Ehlers-Danlos syndrome

Back to List of Questions
Do individuals with adducted thumb and clubfoot syndrome automatically have cognitive deficiencies?  Are there cases where normal intellectual abilities have been noted?

The following information may help to address your question:


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

Is cognitive deficiency a common feature of adducted thumb and clubfoot syndrome?

Mental development is not significantly impaired in patients with adducted thumb and clubfoot
syndrome (ATCS).[1][5][6] In fact, normal cognitive development (absence of mental retardation) is one of the features that differentiates ATCS form other contracture syndromes.[5]
Last updated: 1/30/2011

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

Please see our Disclaimer.

  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.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=403&Disease_Disease_Search_diseaseGroup=Mevalonic-aciduria&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Mevalonic-aciduria&title=Mevalonic-aciduria&searc53. Accessed 1/30/2011.
  5. Janecke AR et al.. J Med Genet. 2001; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734852/pdf/v038p00265.pdf. Accessed 1/30/2011.
  6. Ehlers-Danlos Syndrome, Musculocontractural Type. Online Mendelian Inheritance in Man (OMIM). 2010; http://www.ncbi.nlm.nih.gov/omim/601776. Accessed 1/30/2011.