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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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Your Question

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

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

References
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.