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Diseases

Genetic and Rare Diseases Information Center (GARD)

Desbuquois syndrome


Other Names for this Disease
  • DBQD
  • Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
  • Desbuquois dysplasia
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Cause

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What causes Desbusquois syndrome?

Desbuquois syndrome type 1 and Kim variant are caused by mutations in the CANT1 gene (located on chromosome 17q25.3). In some cases of Desbuquois syndrome type 2 there are mutations in the XYLT1 gene (located on chromosome16p12), but in other cases no cause has been identified, suggesting that there may be other unidentified genes that may also cause the condition.[1]
Last updated: 9/14/2015

References
  1. Desbuquois syndrome. Orphanet. January, 2015; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1631.


Other Names for this Disease
  • DBQD
  • Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
  • Desbuquois dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.